Paul Harmatz, MD

  1. Miller BS, Fung EB, White KK, Lund TC, Harmatz P, Orchard PJ, Whitley CB, Polgreen LE. Persistent bone and joint disease despite current treatments for mucopolysaccharidosis types I, II, and VI: data from a 10-year prospective study. Journal of inherited metabolic disease 2023. PMID: 36840680


  2. Muschol N, Koehn A, von Cossel K, Okur I, Ezgu F, Harmatz P, de Castro Lopez MJ, Couce ML, Lin SP, Batzios S, Cleary M, Solano M, Nestrasil I, Kaufman B, Shaywitz AJ, Maricich SM, Kuca B, Kovalchin J, Zanelli E. A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B. The Journal of clinical investigation 2023. PMID: 36413418


  3. Cohen JL, Chakraborty P, Fung-Kee-Fung K, Schwab ME, Bali D, Young SP, Gelb MH, Khaledi H, DiBattista A, Smallshaw S, Moretti F, Wong D, Lacroix C, El Demellawy D, Strickland KC, Lougheed J, Moon-Grady A, Lianoglou BR, Harmatz P, Kishnani PS, MacKenzie TC. In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease. The New England journal of medicine 2022. PMID: 36351280


  4. Penon-Portmann M, Blair DR, Harmatz P. Current and new therapies for mucopolysaccharidoses. Pediatrics and neonatology 2022. PMID: 36464587


  5. Harmatz P, Prada CE, Burton BK, Lau H, Kessler CM, Cao L, Falaleeva M, Villegas AG, Zeitler J, Meyer K, Miller W, Wong Po Foo C, Vaidya S, Swenson W, Shiue LH, Rouy D, Muenzer J. First-in-human in�vivo genome editing via AAV-zinc-finger nucleases for mucopolysaccharidosis I/II and hemophilia B. Molecular therapy : the journal of the American Society of Gene Therapy 2022. PMID: 36299240


  6. Savarirayan R, Irving M, Harmatz P, Delgado B, Wilcox WR, Philips J, Owen N, Bacino CA, Tofts L, Charrow J, Polgreen LE, Hoover-Fong J, Arundel P, Ginebreda I, Saal HM, Basel D, Font RU, Ozono K, Bober MB, Cormier-Daire V, Le Quan Sang KH, Baujat G, Alanay Y, Rutsch F, Hoernschemeyer D, Mohnike K, Mochizuki H, Tajima A, Kotani Y, Weaver DD, White KK, Army C, Larrimore K, Gregg K, Jeha G, Milligan C, Fisheleva E, Huntsman-Labed A, Day J. Growth parameters in children with achondroplasia: A�7-year, prospective, multinational, observational study. Genetics in medicine : official journal of the American College of Medical Genetics 2022. PMID: 36107167


  7. Muenzer J, Burton BK, Harmatz P, Guti?rrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D, HGT-HIT-094 Study Group. Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study. Molecular genetics and metabolism 2022. PMID: 36027721


  8. Muenzer J, Burton BK, Harmatz P, Guti?rrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D, SHP609-302 study group. Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II. Molecular genetics and metabolism 2022. PMID: 35961250


  9. Harmatz P, Muenzer J, Ezgü F, Dalén P, Huledal G, Lindqvist D, Gelius SS, Wikén M, Önnestam K, Bröijersén A. Chemically modified recombinant human sulfamidase (SOBI003) in mucopolysaccharidosis IIIA patients: Results from an open, non-controlled, multicenter study. Molecular genetics and metabolism 2022. PMID: 35835061


  10. Okur I, Ezgu F, Giugliani R, Muschol N, Koehn A, Amartino H, Harmatz P, de Castro Lopez MJ, Couce ML, Lin SP, Batzios S, Cleary M, Solano M, Peters H, Lee J, Nestrasil I, Shaywitz AJ, Maricich SM, Kuca B, Kovalchin J, Zanelli E. Longitudinal natural history of pediatric subjects affected with mucopolysaccharidosis IIIB. The Journal of pediatrics 2022. PMID: 35709957


  11. Sohn YB, Rogers C, Stallworth J, Cooley Coleman JA, Buch L, Jozwiak E, Johnson JA, Wood T, Harmatz P, Pollard L, Louie RJ. RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A. Molecular genetics and metabolism reports 2022. PMID: 35782621


  12. Savarirayan R, De Bergua JM, Arundel P, McDevitt H, Cormier-Daire V, Saraff V, Skae M, Delgado B, Leiva-Gea A, Santos-Simarro F, Salles JP, Nicolino M, Rossi M, Kannu P, Bober MB, Phillips J, Saal H, Harmatz P, Burren C, Gotway G, Cho T, Muslimova E, Weng R, Rogoff D, Hoover-Fong J, Irving M. Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies. 2022. PMID: 35342457


  13. Grant N, Sohn YB, Ellinwood NM, Okenfuss E, Mendelsohn BA, Lynch LE, Braunlin EA, Harmatz PR, Eisengart JB. Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair. 2022. PMID: 35242576


  14. Schwab ME, Brown JEH, Lianoglou B, Jin C, Conroy PC, Gallagher RC, Harmatz P, MacKenzie TC. Fetal therapies and trials for lysosomal storage diseases: a survey of attitudes of parents and patients. 2022. PMID: 35093147


  15. Kovac V, Shapiro EG, Rudser KD, Mueller BA, Eisengart JB, Delaney KA, Ahmed A, King KE, Yund BD, Cowan MJ, Raiman J, Mamak EG, Harmatz PR, Shankar SP, Ali N, Cagle SR, Wozniak JR, Lim KO, Orchard PJ, Whitley CB, Nestrasil I. Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I. 2022. PMID: 35012890


  16. Leiro B, Phillips D, Duiker M, Harmatz P, Charles S. Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): defining and measuring functional impacts in pediatric patients. 2021. PMID: 34857033


  17. Muenzer J, Botha J, Harmatz P, Giugliani R, Kampmann C, Burton BK. Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome Survey (HOS). 2021. PMID: 34717704


  18. Mengel E, Patterson MC, Da Riol RM, Del Toro M, Deodato F, Gautschi M, Grunewald S, Grønborg S, Harmatz P, Héron B, Maier EM, Roubertie A, Santra S, Tylki-Szymanska A, Day S, Andreasen AK, Geist MA, Havnsøe Torp Petersen N, Ingemann L, Hansen T, Blaettler T, Kirkegaard T, Í Dali C. Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment. Journal of inherited metabolic disease 2021. PMID: 34418116


  19. Savarirayan R, Tofts L, Irving M, Wilcox WR, Bacino CA, Hoover-Fong J, Font RU, Harmatz P, Rutsch F, Bober MB, Polgreen LE, Ginebreda I, Mohnike K, Charrow J, Hoernschemeyer D, Ozono K, Alanay Y, Arundel P, Kotani Y, Yasui N, White KK, Saal HM, Leiva-Gea A, Luna-González F, Mochizuki H, Basel D, Porco DM, Jayaram K, Fisheleva E, Huntsman-Labed A, Day JRS. Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study. Genetics in medicine : official journal of the American College of Medical Genetics 2021. PMID: 34341520


  20. Garcia P, Phillips D, Johnson J, Martin K, Randolph LM, Rosenfeld H, Harmatz P. Long-term outcomes of patients with mucopolysaccharidosis VI treated with galsulfase enzyme replacement therapy since infancy. Molecular genetics and metabolism 2021. PMID: 33775523


  21. Savarirayan R, Tofts L, Irving M, Wilcox W, Bacino CA, Hoover-Fong J, Ullot Font R, Harmatz P, Rutsch F, Bober MB, Polgreen LE, Ginebreda I, Mohnike K, Charrow J, Hoernschemeyer D, Ozono K, Alanay Y, Arundel P, Kagami S, Yasui N, White KK, Saal HM, Leiva-Gea A, Luna-González F, Mochizuki H, Basel D, Porco DM, Jayaram K, Fisheleva E, Huntsman-Labed A, Day J. Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial. Lancet (London, England) 2020. PMID: 32891212


  22. van der Lee JH, Morton J, Adams HR, Clarke L, Eisengart JB, Escolar ML, Giugliani R, Harmatz P, Hogan M, Kearney S, Muenzer J, Muschol N, Rust S, Saville BR, Semrud-Clikeman M, Wang R, Shapiro E. Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints. Molecular genetics and metabolism 2020. PMID: 32917509


  23. Wang RY, da Silva Franco JF, López-Valdez J, Martins E, Sutton VR, Whitley CB, Zhang L, Cimms T, Marsden D, Jurecka A, Harmatz P. Corrigendum to "The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII" [Mol Genet Metab 2020 Mar;129(3):219-227]. Molecular genetics and metabolism 2020. PMID: 32843286


  24. Elsea SH, Solyom A, Martin K, Harmatz P, Mitchell J, Lampe C, Grant C, Selim L, Mungan NO, Guelbert N, Magnusson B, Sundberg E, Puri R, Kapoor S, Arslan N, DiRocco M, Zaki M, Ozen S, Mahmoud IG, Ehlert K, Hahn A, Gokcay G, Torcoletti M, Ferreira CR. ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Human mutation 2020. PMID: 32449975


  25. Giugliani R, Harmatz P, Lin SP, Scarpa M. Assessing the impact of the five senses on quality of life in mucopolysaccharidoses. Orphanet journal of rare diseases 2020. PMID: 32306998


  26. Wang RY, da Silva Franco JF, López-Valdez J, Martins E, Sutton VR, Whitley CB, Zhang L, Cimms T, Marsden D, Jurecka A, Harmatz P. The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII. Molecular genetics and metabolism 2020. PMID: 32063397


  27. Chen AH, Harmatz P, Nestrasil I, Eisengart JB, King KE, Rudser K, Kaizer AM, Svatkova A, Wakumoto A, Le SQ, Madden J, Young S, Zhang H, Polgreen LE, Dickson PI. Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study. Molecular genetics and metabolism 2019. PMID: 31839529


  28. Lampe C, Harmatz PR, Parini R, Sharma R, Teles EL, Johnson J, Sivam D, Sisic Z. Enzyme replacement therapy initiated in adulthood: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program. Molecular genetics and metabolism 2019. PMID: 31324526


  29. Hofmann CE, Harmatz P, Vockley J, Högler W, Nakayama H, Bishop N, Martos-Moreno GÁ, Moseley S, Fujita KP, Liese J, Rockman-Greenberg C, ENB-010-10 Study Group. Efficacy and Safety of Asfotase Alfa in Infants and Young Children With Hypophosphatasia: A Phase 2 Open-Label Study. The Journal of clinical endocrinology and metabolism 2019. PMID: 30811537


  30. Haller C, Song W, Cimms T, Chen CY, Whitley CB, Wang RY, Bauer M, Harmatz P. Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population. JIMD reports 2019. PMID: 31497482


  31. Savarirayan R, Irving M, Bacino CA, Bostwick B, Charrow J, Cormier-Daire V, Le Quan Sang KH, Dickson P, Harmatz P, Phillips J, Owen N, Cherukuri A, Jayaram K, Jeha GS, Larimore K, Chan ML, Huntsman Labed A, Day J, Hoover-Fong J. C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia. The New England journal of medicine 2019. PMID: 31269546


  32. Akyol MU, Alden TD, Amartino H, Ashworth J, Belani K, Berger KI, Borgo A, Braunlin E, Eto Y, Gold JI, Jester A, Jones SA, Karsli C, Mackenzie W, Marinho DR, McFadyen A, McGill J, Mitchell JJ, Muenzer J, Okuyama T, Orchard PJ, Stevens B, Thomas S, Walker R, Wynn R, Giugliani R, Harmatz P, Hendriksz C, Scarpa M, MPS Consensus Programme Steering Committee , MPS Consensus Programme Co-Chairs. Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance. Orphanet journal of rare diseases 2019. PMID: 31196221


  33. Akyol MU, Alden TD, Amartino H, Ashworth J, Belani K, Berger KI, Borgo A, Braunlin E, Eto Y, Gold JI, Jester A, Jones SA, Karsli C, Mackenzie W, Marinho DR, McFadyen A, McGill J, Mitchell JJ, Muenzer J, Okuyama T, Orchard PJ, Stevens B, Thomas S, Walker R, Wynn R, Giugliani R, Harmatz P, Hendriksz C, Scarpa M, MPS Consensus Programme Steering Committee , MPS Consensus Programme Co-Chairs. Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance. Orphanet journal of rare diseases 2019. PMID: 31142378


  34. King KE, Rudser KD, Nestrasil I, Kovac V, Delaney KA, Wozniak JR, Mueller BA, Lim KO, Eisengart JB, Mamak EG, Raiman J, Ali N, Cagle S, Harmatz P, Whitley CB, Shapiro EG. Attention and corpus callosum volumes in individuals with mucopolysaccharidosis type I. Neurology 2019. PMID: 30979856


  35. Harmatz PR, Lampe C, Parini R, Sharma R, Teles EL, Johnson J, Sivam D, Sisic Z. Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program. Journal of inherited metabolic disease 2019. PMID: 30834539


  36. Ghotme KA, Alvarado-Gomez F, Lampe C, White KK, Solano-Villareal M, Giugliani R, Harmatz PR. Spinal cord issues in adult patients with MPS: transition of care survey. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2018. PMID: 29804213


  37. Lund AM, Borgwardt L, Cattaneo F, Ardigò D, Geraci S, Gil-Campos M, De Meirleir L, Laroche C, Dolhem P, Cole D, Tylki-Szymanska A, Lopez-Rodriguez M, Guillén-Navarro E, Dali CI, Héron B, Fogh J, Muschol N, Phillips D, Van den Hout JMH, Jones SA, Amraoui Y, Harmatz P, Guffon N. Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis. Journal of inherited metabolic disease 2018. PMID: 29725868


  38. Harmatz P, Cattaneo F, Ardigò D, Geraci S, Hennermann JB, Guffon N, Lund A, Hendriksz CJ, Borgwardt L. Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis. Molecular genetics and metabolism 2018. PMID: 29716835


  39. Whitley CB, Cleary M, Eugen Mengel K, Harmatz P, Shapiro E, Nestrasil I, Haslett P, Whiteman D, Alexanderian D. Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B. The Journal of pediatrics 2018. PMID: 29661560


  40. Hendriksz CJ, Harmatz P, Giugliani R, Roberts J, Arul GS. Risks of long-term port use in enzyme replacement therapy for lysosomal storage disorders. Molecular genetics and metabolism reports 2018. PMID: 29845015


  41. Harmatz P, Whitley CB, Wang RY, Bauer M, Song W, Haller C, Kakkis E. A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease. Molecular genetics and metabolism 2018. PMID: 29478819


  42. Ficicioglu C, Giugliani R, Harmatz P, Mendelsohn NJ, Jego V, Parini R. Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS). American journal of medical genetics. Part A 2017. PMID: 29210515


  43. Hendriksz CJ, Parini R, AlSayed MD, Raiman J, Giugliani R, Mitchell JJ, Burton BK, Guelbert N, Stewart FJ, Hughes DA, Matousek R, Hawley SM, Decker C, Harmatz PR. Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study. Molecular genetics and metabolism 2017. PMID: 29248359


  44. Berger KI, Burton BK, Lewis GD, Tarnopolsky M, Harmatz PR, Mitchell JJ, Muschol N, Jones SA, Sutton VR, Pastores GM, Lau H, Sparkes R, Shaywitz AJ. Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa. JIMD reports 2017. PMID: 29159458


  45. Alden TD, Amartino H, Dalla Corte A, Lampe C, Harmatz PR, Vedolin L. Surgical management of neurological manifestations of mucopolysaccharidosis disorders. Molecular genetics and metabolism 2017. PMID: 29153846


  46. Kishnani PS, Rush ET, Arundel P, Bishop N, Dahir K, Fraser W, Harmatz P, Linglart A, Munns CF, Nunes ME, Saal HM, Seefried L, Ozono K. Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa. Molecular genetics and metabolism 2017. PMID: 28888853


  47. van der Lee JH, Morton J, Adams HR, Clarke L, Ebbink BJ, Escolar ML, Giugliani R, Harmatz P, Hogan M, Jones S, Kearney S, Muenzer J, Rust S, Semrud-Clikeman M, Wijburg FA, Yu ZF, Janzen D, Shapiro E. Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure. Molecular genetics and metabolism 2017. PMID: 28501294


  48. Muenzer J, Jones SA, Tylki-Szymanska A, Harmatz P, Mendelsohn NJ, Guffon N, Giugliani R, Burton BK, Scarpa M, Beck M, Jangelind Y, Hernberg-Stahl E, Larsen MP, Pulles T, Whiteman DAH. Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry. Orphanet journal of rare diseases 2017. PMID: 28464912


  49. Harmatz P, Hendriksz CJ, Lampe C, McGill JJ, Parini R, Leão-Teles E, Valayannopoulos V, Cole TJ, Matousek R, Graham S, Guffon N, Quartel A, MPS VI Study Group. The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Molecular genetics and metabolism 2017. PMID: 28457718


  50. Giugliani R, Harmatz P, Jones SA, Mendelsohn NJ, Vellodi A, Qiu Y, Hendriksz CJ, Vijayaraghavan S, Whiteman DA, Pano A. Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients. Molecular genetics and metabolism reports 2017. PMID: 28243577


  51. Harmatz P, Shediac R. Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment. Frontiers in bioscience (Landmark edition) 2017. PMID: 27814620


  52. Long B, Tompkins T, Decker C, Jesaitis L, Khan S, Slasor P, Harmatz P, O'Neill CA, Schweighardt B. Long-term Immunogenicity of Elosulfase Alfa in the Treatment of Morquio A Syndrome: Results From MOR-005, a Phase III Extension Study. Clinical therapeutics 2016. PMID: 27955919


  53. Harmatz PR, Mengel E, Geberhiwot T, Muschol N, Hendriksz CJ, Burton BK, Jameson E, Berger KI, Jester A, Treadwell M, Sisic Z, Decker C. Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study. American journal of medical genetics. Part A 2016. PMID: 27774754


  54. Stewart FJ, Bentley A, Burton BK, Guffon N, Hale SL, Harmatz PR, Kircher SG, Kochhar PK, Mitchell JJ, Plöckinger U, Graham S, Sande S, Sisic Z, Johnston TA. Pregnancy in patients with mucopolysaccharidosis: a case series. Molecular genetics and metabolism reports 2016. PMID: 27622143


  55. Hendriksz CJ, Berger KI, Parini R, AlSayed MD, Raiman J, Giugliani R, Mitchell JJ, Burton BK, Guelbert N, Stewart F, Hughes DA, Matousek R, Jurecki E, Decker C, Harmatz PR. Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome. Journal of inherited metabolic disease 2016. PMID: 27553181


  56. Hendriksz CJ, Parini R, AlSayed MD, Raiman J, Giugliani R, Solano Villarreal ML, Mitchell JJ, Burton BK, Guelbert N, Stewart F, Hughes DA, Berger KI, Slasor P, Matousek R, Jurecki E, Shaywitz AJ, Harmatz PR. Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome. Molecular genetics and metabolism 2016. PMID: 27380995


  57. Solanki GA, Sun PP, Martin KW, Hendriksz CJ, Lampe C, Guffon N, Hung A, Sisic Z, Shediac R, Harmatz PR, CSP Study Group. Cervical cord compression in mucopolysaccharidosis VI (MPS VI): Findings from the MPS VI Clinical Surveillance Program (CSP). Molecular genetics and metabolism 2016. PMID: 27339555


  58. Parini R, Jones SA, Harmatz PR, Giugliani R, Mendelsohn NJ. The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS). Molecular genetics and metabolism 2016. PMID: 26846156


  59. Clarke LA, Harmatz P, Fong EW. Implementing evidence-driven individualized treatment plans within Morquio A Syndrome. Molecular genetics and metabolism 2015. PMID: 26877092


  60. Jones SA, Bialer M, Parini R, Martin K, Wang H, Yang K, Shaywitz AJ, Harmatz P. Safety and clinical activity of elosulfase alfa in pediatric patients with Morquio A syndrome (mucopolysaccharidosis IVA) less than 5 y. Pediatric research 2015. PMID: 26331768


  61. Dickson PI, Kaitila I, Harmatz P, Mlikotic A, Chen AH, Victoroff A, Passage MB, Madden J, Le SQ, Naylor DE, Mucopolysaccharidosis I Intrathecal Research Collaborative. Data from subjects receiving intrathecal laronidase for cervical spinal stenosis due to mucopolysaccharidosis type I. Data in brief 2015. PMID: 26484358


  62. Harmatz P. Enzyme Replacement Therapies and Immunogenicity in Lysosomal Storage Diseases: Is There a Pattern? Clinical therapeutics 2015. PMID: 26243075


  63. Dickson PI, Kaitila I, Harmatz P, Mlikotic A, Chen AH, Victoroff A, Passage MB, Madden J, Le SQ, Naylor DE, Mucopolysaccharidosis I Intrathecal Research Collaborative. Safety of laronidase delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis I. Molecular genetics and metabolism 2015. PMID: 26260077


  64. Shapiro EG, Nestrasil I, Rudser K, Delaney K, Kovac V, Ahmed A, Yund B, Orchard PJ, Eisengart J, Niklason GR, Raiman J, Mamak E, Cowan MJ, Bailey-Olson M, Harmatz P, Shankar SP, Cagle S, Ali N, Steiner RD, Wozniak J, Lim KO, Whitley CB. Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment. Molecular genetics and metabolism 2015. PMID: 26095521


  65. Burton BK, Berger KI, Lewis GD, Tarnopolsky M, Treadwell M, Mitchell JJ, Muschol N, Jones SA, Sutton VR, Pastores GM, Lau H, Sparkes R, Genter F, Shaywitz AJ, Harmatz P. Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study. American journal of medical genetics. Part A 2015. PMID: 26069231


  66. Smith L, Rhead W, Charrow J, Shankar SP, Bavdekar A, Longo N, Mardach R, Harmatz P, Hangartner T, Lee HM, Crombez E, Pastores GM. Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase. Molecular genetics and metabolism 2015. PMID: 26043810


  67. Quartel A, Hendriksz CJ, Parini R, Graham S, Lin P, Harmatz P. Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome). JIMD reports 2014. PMID: 25518809


  68. Yund B, Rudser K, Ahmed A, Kovac V, Nestrasil I, Raiman J, Mamak E, Harmatz P, Steiner R, Lau H, Vekaria P, Wozniak JR, Lim KO, Delaney K, Whitley C, Shapiro EG. Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II. Molecular genetics and metabolism 2014. PMID: 25541100


  69. Meloni A, Detterich J, Pepe A, Harmatz P, Coates TD, Wood JC. Pulmonary hypertension in well-transfused thalassemia major patients. Blood cells, molecules & diseases 2014. PMID: 25488617


  70. Harmatz PR, Mengel KE, Giugliani R, Valayannopoulos V, Lin SP, Parini R, Guffon N, Burton BK, Hendriksz CJ, Mitchell JJ, Martins AM, Jones SA, Guelbert N, Vellodi A, Wijburg FA, Yang K, Slasor P, Decker C. Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome. Molecular genetics and metabolism 2014. PMID: 25582974


  71. Hendriksz CJ, Berger KI, Giugliani R, Harmatz P, Kampmann C, Mackenzie WG, Raiman J, Villarreal MS, Savarirayan R. International guidelines for the management and treatment of Morquio A syndrome. American journal of medical genetics. Part A 2014. PMID: 25346323


  72. Morrone A, Caciotti A, Atwood R, Davidson K, Du C, Francis-Lyon P, Harmatz P, Mealiffe M, Mooney S, Oron TR, Ryles A, Zawadzki KA, Miller N. Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database. Human mutation 2014. PMID: 25137622


  73. Porter JB, Walter PB, Neumayr LD, Evans P, Bansal S, Garbowski M, Weyhmiller MG, Harmatz PR, Wood JC, Miller JL, Byrnes C, Weiss G, Seifert M, Grosse R, Grabowski D, Schmidt A, Fischer R, Nielsen P, Niemeyer C, Vichinsky E. Mechanisms of plasma non-transferrin bound iron generation: insights from comparing transfused diamond blackfan anaemia with sickle cell and thalassaemia patients. British journal of haematology 2014. PMID: 25209728


  74. Hendriksz CJ, Giugliani R, Harmatz P, Mengel E, Guffon N, Valayannopoulos V, Parini R, Hughes D, Pastores GM, Lau HA, Al-Sayed MD, Raiman J, STRIVE Investigators , Yang K, Mealiffe M, Haller C. Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial. Molecular genetics and metabolism 2014. PMID: 25284089


  75. White KK, Jester A, Bache CE, Harmatz PR, Shediac R, Thacker MM, Mackenzie WG. Orthopedic management of the extremities in patients with Morquio A syndrome. Journal of children's orthopaedics 2014. PMID: 25001525


  76. Schoennagel BP, Remus CC, Wedegaertner U, Salzmann I, Grabhorn E, Adam G, Fischer R, Harmatz P, Kooijman H, Yamamura J. Quantification of prenatal liver and spleen iron in a sheep model and assessment of iron stores in a human neonate with neonatal hemochromatosis using R2* mapping. Magnetic resonance in medical sciences : MRMS : an official journal of Japan Society of Magnetic Resonance in Medicine 2014. PMID: 24990465


  77. Hendriksz CJ, Burton B, Fleming TR, Harmatz P, Hughes D, Jones SA, Lin SP, Mengel E, Scarpa M, Valayannopoulos V, Giugliani R, STRIVE Investigators , Slasor P, Lounsbury D, Dummer W. Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study. Journal of inherited metabolic disease 2014. PMID: 24810369


  78. Giugliani R, Lampe C, Guffon N, Ketteridge D, Leão-Teles E, Wraith JE, Jones SA, Piscia-Nichols C, Lin P, Quartel A, Harmatz P. Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)--10-year follow-up of patients who previously participated in an MPS VI Survey Study. American journal of medical genetics. Part A 2014. PMID: 24764221


  79. Harmatz PR, Garcia P, Guffon N, Randolph LM, Shediac R, Braunlin E, Lachman RS, Decker C. Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI. Journal of inherited metabolic disease 2013. PMID: 24108527


  80. Langereis EJ, Borgo A, Crushell E, Harmatz PR, van Hasselt PM, Jones SA, Kelly PM, Lampe C, van der Lee JH, Odent T, Sakkers R, Scarpa M, Schafroth MU, Struijs PA, Valayannopoulos V, White KK, Wijburg FA. Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure. Orphanet journal of rare diseases 2013. PMID: 24088413


  81. Vera M, Le S, Kan SH, Garban H, Naylor D, Mlikotic A, Kaitila I, Harmatz P, Chen A, Dickson P. Immune response to intrathecal enzyme replacement therapy in mucopolysaccharidosis I patients. Pediatric research 2013. PMID: 24002329


  82. Banugaria SG, Prater SN, Patel TT, Dearmey SM, Milleson C, Sheets KB, Bali DS, Rehder CW, Raiman JA, Wang RA, Labarthe F, Charrow J, Harmatz P, Chakraborty P, Rosenberg AS, Kishnani PS. Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT. PloS one 2013. PMID: 23825616


  83. Möllmann C, Lampe CG, Müller-Forell W, Scarpa M, Harmatz P, Schwarz M, Beck M, Lampe C. Development of a Scoring System to Evaluate the Severity of Craniocervical Spinal Cord Compression in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome). JIMD reports 2013. PMID: 23580366


  84. Hendriksz CJ, Harmatz P, Beck M, Jones S, Wood T, Lachman R, Gravance CG, Orii T, Tomatsu S. Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA. Molecular genetics and metabolism 2013. PMID: 23665161


  85. Jones SA, Parini R, Harmatz P, Giugliani R, Fang J, Mendelsohn NJ, HOS Natural History Working Group on behalf of HOS Investigators. The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS). Molecular genetics and metabolism 2013. PMID: 23537841


  86. Lampe C, Lampe C, Schwarz M, Müller-Forell W, Harmatz P, Mengel E. Craniocervical decompression in patients with mucopolysaccharidosis VI: development of a scoring system to determine indication and outcome of surgery. Journal of inherited metabolic disease 2013. PMID: 23408180


  87. Harmatz P, Mengel KE, Giugliani R, Valayannopoulos V, Lin SP, Parini R, Guffon N, Burton BK, Hendriksz CJ, Mitchell J, Martins A, Jones S, Guelbert N, Vellodi A, Hollak C, Slasor P, Decker C. The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects. Molecular genetics and metabolism 2013. PMID: 23452954


  88. Solanki GA, Martin KW, Theroux MC, Lampe C, White KK, Shediac R, Lampe CG, Beck M, Mackenzie WG, Hendriksz CJ, Harmatz PR. Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management. Journal of inherited metabolic disease 2013. PMID: 23385297


  89. Wood TC, Harvey K, Beck M, Burin MG, Chien YH, Church HJ, D'Almeida V, van Diggelen OP, Fietz M, Giugliani R, Harmatz P, Hawley SM, Hwu WL, Ketteridge D, Lukacs Z, Miller N, Pasquali M, Schenone A, Thompson JN, Tylee K, Yu C, Hendriksz CJ. Diagnosing mucopolysaccharidosis IVA. Journal of inherited metabolic disease 2013. PMID: 23371450


  90. Sohn EY, Kato R, Noetzli LJ, Gera A, Coates T, Harmatz P, Keens TG, Wood JC. Exercise performance in thalassemia major: correlation with cardiac iron burden. American journal of hematology 2013. PMID: 23339082


  91. Zimran A, Pastores GM, Tylki-Szymanska A, Hughes DA, Elstein D, Mardach R, Eng C, Smith L, Heisel-Kurth M, Charrow J, Harmatz P, Fernhoff P, Rhead W, Longo N, Giraldo P, Ruiz JA, Zahrieh D, Crombez E, Grabowski GA. Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase. American journal of hematology 2013. PMID: 23339116


  92. Walter PB, Porter J, Evans P, Kwiatkowski JL, Neufeld EJ, Coates T, Giardina PJ, Grady RW, Vichinsky E, Olivieri N, Trachtenberg F, Alberti D, Fung E, Ames B, Higa A, Harmatz P, Thalassemia Clinical Research Network. Increased leucocyte apoptosis in transfused ß-thalassaemia patients. British journal of haematology 2012. PMID: 23216540


  93. Walker R, Belani KG, Braunlin EA, Bruce IA, Hack H, Harmatz PR, Jones S, Rowe R, Solanki GA, Valdemarsson B. Anaesthesia and airway management in mucopolysaccharidosis. Journal of inherited metabolic disease 2012. PMID: 23197104


  94. Lal A, Porter J, Sweeters N, Ng V, Evans P, Neumayr L, Kurio G, Harmatz P, Vichinsky E. Combined chelation therapy with deferasirox and deferoxamine in thalassemia. Blood cells, molecules & diseases 2012. PMID: 23151373


  95. Solanki GA, Alden TD, Burton BK, Giugliani R, Horovitz DD, Jones SA, Lampe C, Martin KW, Ryan ME, Schaefer MK, Siddiqui A, White KK, Harmatz P. A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI. Molecular genetics and metabolism 2012. PMID: 22938833


  96. Braunlin E, Rosenfeld H, Kampmann C, Johnson J, Beck M, Giugliani R, Guffon N, Ketteridge D, Sá Miranda CM, Scarpa M, Schwartz IV, Leão Teles E, Wraith JE, Barrios P, Dias da Silva E, Kurio G, Richardson M, Gildengorin G, Hopwood JJ, Imperiale M, Schatz A, Decker C, Harmatz P, MPS VI Study Group. Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy. Journal of inherited metabolic disease 2012. PMID: 22669363


  97. Wood T, Bodamer OA, Burin MG, D'Almeida V, Fietz M, Giugliani R, Hawley SM, Hendriksz CJ, Hwu WL, Ketteridge D, Lukacs Z, Mendelsohn NJ, Miller N, Pasquali M, Schenone A, Schoonderwoerd K, Winchester B, Harmatz P. Expert recommendations for the laboratory diagnosis of MPS VI. Molecular genetics and metabolism 2012. PMID: 22405600


  98. Neufeld EJ, Galanello R, Viprakasit V, Aydinok Y, Piga A, Harmatz P, Forni GL, Shah FT, Grace RF, Porter JB, Wood JC, Peppe J, Jones A, Rienhoff HY. A phase 2 study of the safety, tolerability, and pharmacodynamics of FBS0701, a novel oral iron chelator, in transfusional iron overload. Blood 2012. PMID: 22251482


  99. Hendriksz CJ, Giugliani R, Harmatz P, Lampe C, Martins AM, Pastores GM, Steiner RD, Leão Teles E, Valayannopoulos V, CSP Study Group. Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP). Journal of inherited metabolic disease 2011. PMID: 22127392


  100. Detterich J, Noetzli L, Dorey F, Bar-Cohen Y, Harmatz P, Coates T, Wood J. Electrocardiographic consequences of cardiac iron overload in thalassemia major. American journal of hematology 2011. PMID: 22052662


  101. Muenzer J, Bodamer O, Burton B, Clarke L, Frenking GS, Giugliani R, Jones S, Rojas MV, Scarpa M, Beck M, Harmatz P. The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus. European journal of pediatrics 2011. PMID: 22037758


  102. Maggio A, Filosa A, Vitrano A, Aloj G, Kattamis A, Ceci A, Fucharoen S, Cianciulli P, Grady RW, Prossomariti L, Porter JB, Iacono A, Cappellini MD, Bonifazi F, Cassarà F, Harmatz P, Wood J, Gluud C. Iron chelation therapy in thalassemia major: a systematic review with meta-analyses of 1520 patients included on randomized clinical trials. Blood cells, molecules & diseases 2011. PMID: 21843958


  103. Sohn EY, Noetzli LJ, Gera A, Kato R, Coates TD, Harmatz P, Keens TG, Wood JC. Pulmonary function in thalassaemia major and its correlation with body iron stores. British journal of haematology 2011. PMID: 21810090


  104. Braunlin EA, Harmatz PR, Scarpa M, Furlanetto B, Kampmann C, Loehr JP, Ponder KP, Roberts WC, Rosenfeld HM, Giugliani R. Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. Journal of inherited metabolic disease 2011. PMID: 21744090


  105. Wood JC, Glynos T, Thompson A, Giardina P, Harmatz P, Kang BP, Paley C, Coates TD. Relationship between labile plasma iron, liver iron concentration and cardiac response in a deferasirox monotherapy trial. Haematologica 2011. PMID: 21393329


  106. Muenzer J, Beck M, Eng CM, Giugliani R, Harmatz P, Martin R, Ramaswami U, Vellodi A, Wraith JE, Cleary M, Gucsavas-Calikoglu M, Puga AC, Shinawi M, Ulbrich B, Vijayaraghavan S, Wendt S, Conway AM, Rossi A, Whiteman DA, Kimura A. Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome. Genetics in medicine : official journal of the American College of Medical Genetics 2011. PMID: 21150784


  107. Rienhoff HY, Viprakasit V, Tay L, Harmatz P, Vichinsky E, Chirnomas D, Kwiatkowski JL, Tapper A, Kramer W, Porter JB, Neufeld EJ. A phase 1 dose-escalation study: safety, tolerability, and pharmacokinetics of FBS0701, a novel oral iron chelator for the treatment of transfusional iron overload. Haematologica 2010. PMID: 21173101


  108. Mendelsohn NJ, Harmatz P, Bodamer O, Burton BK, Giugliani R, Jones SA, Lampe C, Malm G, Steiner RD, Parini R, Hunter Outcome Survey Investigators. Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey. Genetics in medicine : official journal of the American College of Medical Genetics 2010. PMID: 21045710


  109. Wood JC, Glynos T, Thompson A, Giardina P, Harmatz P, Kang BP, Paley C, Coates TD. Follow-up report on the 2-year cardiac data from a deferasirox monotherapy trial. American journal of hematology 2010. PMID: 20799360


  110. Ferrari S, Ponzin D, Ashworth JL, Fahnehjelm KT, Summers CG, Harmatz PR, Scarpa M. Diagnosis and management of ophthalmological features in patients with mucopolysaccharidosis. The British journal of ophthalmology 2010. PMID: 20852315


  111. Harmatz P. Enzyme replacement therapy with galsulfase for mucopolysaccharidosis VI: clinical facts and figures. The Turkish journal of pediatrics 2010. PMID: 21434527


  112. Di Marco V, Capra M, Angelucci E, Borgna-Pignatti C, Telfer P, Harmatz P, Kattamis A, Prossamariti L, Filosa A, Rund D, Gamberini MR, Cianciulli P, De Montalembert M, Gagliardotto F, Foster G, Grangè JD, Cassarà F, Iacono A, Cappellini MD, Brittenham GM, Prati D, Pietrangelo A, Craxì A, Maggio A, Italian Society for the Study of Thalassemia and Haemoglobinopathies , Italian Association for the Study of the Liver. Management of chronic viral hepatitis in patients with thalassemia: recommendations from an international panel. Blood 2010. PMID: 20551378


  113. Wood JC, Kang BP, Thompson A, Giardina P, Harmatz P, Glynos T, Paley C, Coates TD. The effect of deferasirox on cardiac iron in thalassemia major: impact of total body iron stores. Blood 2010. PMID: 20421452


  114. Valayannopoulos V, Nicely H, Harmatz P, Turbeville S. Mucopolysaccharidosis VI. Orphanet journal of rare diseases 2010. PMID: 20385007


  115. James EB, Vreman HJ, Wong RJ, Stevenson DK, Vichinsky E, Schumacher L, Hall JY, Simon J, Golden DW, Harmatz P. Elevated exhaled carbon monoxide concentration in hemoglobinopathies and its relation to red blood cell transfusion therapy. Pediatric hematology and oncology 2010. PMID: 20201692


  116. Harmatz P, Yu ZF, Giugliani R, Schwartz IV, Guffon N, Teles EL, Miranda MC, Wraith JE, Beck M, Arash L, Scarpa M, Ketteridge D, Hopwood JJ, Plecko B, Steiner R, Whitley CB, Kaplan P, Swiedler SJ, Hardy K, Berger KI, Decker C. Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. Journal of inherited metabolic disease 2010. PMID: 20140523


  117. Wang ZJ, Fischer R, Chu Z, Mahoney DH, Mueller BU, Muthupillai R, James EB, Krishnamurthy R, Chung T, Padua E, Vichinsky E, Harmatz P. Assessment of cardiac iron by MRI susceptometry and R2* in patients with thalassemia. Magnetic resonance imaging 2010. PMID: 20061110


  118. Fung EB, Johnson JA, Madden J, Kim T, Harmatz P. Bone density assessment in patients with mucopolysaccharidosis: A preliminary report from patients with MPS II and VI. Journal of pediatric rehabilitation medicine 2010. PMID: 20617160


  119. Decker C, Yu ZF, Giugliani R, Schwartz IV, Guffon N, Teles EL, Miranda MC, Wraith JE, Beck M, Arash L, Scarpa M, Ketteridge D, Hopwood JJ, Plecko B, Steiner R, Whitley CB, Kaplan P, Swiedler SJ, Conrad S, Harmatz P. Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. Journal of pediatric rehabilitation medicine 2010. PMID: 20634905


  120. White KK, Harmatz P. Orthopedic management of mucopolysaccharide disease. Journal of pediatric rehabilitation medicine 2010. PMID: 21791829


  121. Walter PB, Harmatz P, Vichinsky E. Iron metabolism and iron chelation in sickle cell disease. Acta haematologica 2009. PMID: 19907155


  122. Muenzer J, Beck M, Eng CM, Escolar ML, Giugliani R, Guffon NH, Harmatz P, Kamin W, Kampmann C, Koseoglu ST, Link B, Martin RA, Molter DW, Muñoz Rojas MV, Ogilvie JW, Parini R, Ramaswami U, Scarpa M, Schwartz IV, Wood RE, Wraith E. Multidisciplinary management of Hunter syndrome. Pediatrics 2009. PMID: 19901005


  123. Ghugre NR, Gonzalez-Gomez I, Butensky E, Noetzli L, Fischer R, Williams R, Harmatz P, Coates TD, Wood JC. Patterns of hepatic iron distribution in patients with chronically transfused thalassemia and sickle cell disease. American journal of hematology 2009. PMID: 19536851


  124. Trefz FK, Burton BK, Longo N, Casanova MM, Gruskin DJ, Dorenbaum A, Kakkis ED, Crombez EA, Grange DK, Harmatz P, Lipson MH, Milanowski A, Randolph LM, Vockley J, Whitley CB, Wolff JA, Bebchuk J, Christ-Schmidt H, Hennermann JB, Sapropterin Study Group. Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study. The Journal of pediatrics 2009. PMID: 19261295


  125. Butensky James E, Harmatz P, Lee M, Kennedy C, Petru A, Wara D, Miaskowski C. Altered iron metabolism in children with human immunodeficiency virus disease. Pediatric hematology and oncology 2009. PMID: 19322737


  126. Fischer R, Harmatz PR. Non-invasive assessment of tissue iron overload. Hematology. American Society of Hematology. Education Program 2009. PMID: 20008201


  127. Heyman MB, Garnett EA, Shaikh N, Huen K, Jose FA, Harmatz P, Winter HS, Baldassano RN, Cohen SA, Gold BD, Kirschner BS, Ferry GD, Stege E, Holland N. Folate concentrations in pediatric patients with newly diagnosed inflammatory bowel disease. The American journal of clinical nutrition 2008. PMID: 19116333


  128. Nielsen P, Engelhardt R, Grosse R, Janka G, Harmatz P, Fischer R. Italian Society of Hematology guidelines for thalassemia and non-invasive iron measurements. Haematologica 2008. PMID: 19109216


  129. Block G, Jensen CD, Dalvi TB, Norkus EP, Hudes M, Crawford PB, Holland N, Fung EB, Schumacher L, Harmatz P. Vitamin C treatment reduces elevated C-reactive protein. Free radical biology & medicine 2008. PMID: 18952164


  130. Harmatz P, Jonas MM, Kwiatkowski JL, Wright EC, Fischer R, Vichinsky E, Giardina PJ, Neufeld EJ, Porter J, Olivieri N, Thalassemia Clinical Research Network. Safety and efficacy of pegylated interferon alpha-2a and ribavirin for the treatment of hepatitis C in patients with thalassemia. Haematologica 2008. PMID: 18556414


  131. Fung EB, Harmatz PR, Milet M, Balasa V, Ballas SK, Casella JF, Hilliard L, Kutlar A, McClain KL, Olivieri NF, Porter JB, Vichinsky EP, Multi-Center Iron Overload Research Group. Disparity in the management of iron overload between patients with sickle cell disease and thalassemia who received transfusions. Transfusion 2008. PMID: 18513257


  132. Harmatz P, Giugliani R, Schwartz IV, Guffon N, Teles EL, Miranda MC, Wraith JE, Beck M, Arash L, Scarpa M, Ketteridge D, Hopwood JJ, Plecko B, Steiner R, Whitley CB, Kaplan P, Yu ZF, Swiedler SJ, Decker C, MPS VI Study Group. Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase. Molecular genetics and metabolism 2008. PMID: 18502162


  133. Walter PB, Macklin EA, Porter J, Evans P, Kwiatkowski JL, Neufeld EJ, Coates T, Giardina PJ, Vichinsky E, Olivieri N, Alberti D, Holland J, Harmatz P, Thalassemia Clinical Research Network. Inflammation and oxidant-stress in beta-thalassemia patients treated with iron chelators deferasirox (ICL670) or deferoxamine: an ancillary study of the Novartis CICL670A0107 trial. Haematologica 2008. PMID: 18469351


  134. Koseoglu ST, Harmatz P, Turbeville S, Nicely H. Reversed papilledema in an MPS VI patient with galsulfase (Naglazyme) therapy. International ophthalmology 2008. PMID: 18418554


  135. Block G, Jensen CD, Morrow JD, Holland N, Norkus EP, Milne GL, Hudes M, Dalvi TB, Crawford PB, Fung EB, Schumacher L, Harmatz P. The effect of vitamins C and E on biomarkers of oxidative stress depends on baseline level. Free radical biology & medicine 2008. PMID: 18455517


  136. Fung EB, Harmatz PR, Milet M, Coates TD, Thompson AA, Ranalli M, Mignaca R, Scher C, Giardina P, Robertson S, Neumayr L, Vichinsky EP, Multi-Center Iron Overload Study Group. Fracture prevalence and relationship to endocrinopathy in iron overloaded patients with sickle cell disease and thalassemia. Bone 2008. PMID: 18430624


  137. Harmatz P. Entering a new treatment age for mucopolysaccharidosis VI disease: a search for better markers of disease progression and response to treatment. Jornal de pediatria 2008. PMID: 18372931


  138. Holland N, Dong J, Garnett E, Shaikh N, Huen K, Harmatz P, Olive A, Winter HS, Gold BD, Cohen SA, Baldassano RN, Kirschner BS, Heyman MB. Reduced intracellular T-helper 1 interferon-gamma in blood of newly diagnosed children with Crohn's disease and age-related changes in Th1/Th2 cytokine profiles. Pediatric research 2008. PMID: 18287963


  139. Martin R, Beck M, Eng C, Giugliani R, Harmatz P, Muñoz V, Muenzer J. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics 2008. PMID: 18245410


  140. Jastaniah W, Harmatz P, Pakbaz Z, Fischer R, Vichinsky E, Walters MC. Transfusional iron burden and liver toxicity after bone marrow transplantation for acute myelogenous leukemia and hemoglobinopathies. Pediatric blood & cancer 2008. PMID: 17557314


  141. Feillet F, Clarke L, Meli C, Lipson M, Morris AA, Harmatz P, Mould DR, Green B, Dorenbaum A, Giovannini M, Foehr E, Sapropterin Research Group. Pharmacokinetics of sapropterin in patients with phenylketonuria. Clinical pharmacokinetics 2008. PMID: 19026037


  142. Karageorgos L, Brooks DA, Pollard A, Melville EL, Hein LK, Clements PR, Ketteridge D, Swiedler SJ, Beck M, Giugliani R, Harmatz P, Wraith JE, Guffon N, Leão Teles E, Sá Miranda MC, Hopwood JJ. Mutational analysis of 105 mucopolysaccharidosis type VI patients. Human mutation 2007. PMID: 17458871


  143. Pakbaz Z, Fischer R, Fung E, Nielsen P, Harmatz P, Vichinsky E. Serum ferritin underestimates liver iron concentration in transfusion independent thalassemia patients as compared to regularly transfused thalassemia and sickle cell patients. Pediatric blood & cancer 2007. PMID: 17554789


  144. Giugliani R, Harmatz P, Wraith JE. Management guidelines for mucopolysaccharidosis VI. Pediatrics 2007. PMID: 17671068


  145. Harmatz P, Grady RW, Dragsten P, Vichinsky E, Giardina P, Madden J, Jeng M, Miller B, Hanson G, Hedlund B. Phase Ib clinical trial of starch-conjugated deferoxamine (40SD02): a novel long-acting iron chelator. British journal of haematology 2007. PMID: 17614825


  146. Jenkins ZA, Hagar W, Bowlus CL, Johansson HE, Harmatz P, Vichinsky EP, Theil EC. Iron homeostasis during transfusional iron overload in beta-thalassemia and sickle cell disease: changes in iron regulatory protein, hepcidin, and ferritin expression. Pediatric hematology and oncology 2007. PMID: 17613866


  147. Fung EB, Harmatz P, Milet M, Ballas SK, De Castro L, Hagar W, Owen W, Olivieri N, Smith-Whitley K, Darbari D, Wang W, Vichinsky E, Multi-Center Study of Iron Overload Research Group. Morbidity and mortality in chronically transfused subjects with thalassemia and sickle cell disease: A report from the multi-center study of iron overload. American journal of hematology 2007. PMID: 17094096


  148. Holland N, Harmatz P, Golden D, Hubbard A, Wu YY, Bae J, Chen C, Huen K, Heyman MB. Cytogenetic damage in blood lymphocytes and exfoliated epithelial cells of children with inflammatory bowel disease. Pediatric research 2007. PMID: 17237724


  149. Moskowitz JT, Butensky E, Harmatz P, Vichinsky E, Heyman MB, Acree M, Wrubel J, Wilson L, Folkman S. Caregiving time in sickle cell disease: psychological effects in maternal caregivers. Pediatric blood & cancer 2007. PMID: 16622841


  150. Karageorgos L, Brooks DA, Harmatz P, Ketteridge D, Pollard A, Melville EL, Parkinson-Lawrence E, Clements PR, Hopwood JJ. Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy. Molecular genetics and metabolism 2006. PMID: 17161971


  151. Fung EB, Harmatz PR, Lee PD, Milet M, Bellevue R, Jeng MR, Kalinyak KA, Hudes M, Bhatia S, Vichinsky EP, Multi-Centre Study of Iron Overload Research Group. Increased prevalence of iron-overload associated endocrinopathy in thalassaemia versus sickle-cell disease. British journal of haematology 2006. PMID: 17054676


  152. Walter PB, Fung EB, Killilea DW, Jiang Q, Hudes M, Madden J, Porter J, Evans P, Vichinsky E, Harmatz P. Oxidative stress and inflammation in iron-overloaded patients with beta-thalassaemia or sickle cell disease. British journal of haematology 2006. PMID: 17010049


  153. Fischer R, Harmatz P, Nielsen P. Does liver biopsy overestimate liver iron concentration? Blood 2006. PMID: 16926297


  154. Muenzer J, Wraith JE, Beck M, Giugliani R, Harmatz P, Eng CM, Vellodi A, Martin R, Ramaswami U, Gucsavas-Calikoglu M, Vijayaraghavan S, Wendt S, Wendt S, Puga AC, Puga A, Ulbrich B, Shinawi M, Cleary M, Piper D, Conway AM, Conway AM, Kimura A. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genetics in medicine : official journal of the American College of Medical Genetics 2006. PMID: 16912578


  155. Fischer R, Harmatz P, Nielsen P. Does liver biopsy overestimate liver iron concentration? Blood 2006. PMID: 16822911


  156. Harmatz P, Giugliani R, Schwartz I, Guffon N, Teles EL, Miranda MC, Wraith JE, Beck M, Arash L, Scarpa M, Yu ZF, Wittes J, Berger KI, Newman MS, Lowe AM, Kakkis E, Swiedler SJ, MPS VI Phase 3 Study Group. Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-l The Journal of pediatrics 2006. PMID: 16647419


  157. Vichinsky E, Butensky E, Fung E, Hudes M, Theil E, Ferrell L, Williams R, Louie L, Lee PD, Harmatz P. Comparison of organ dysfunction in transfused patients with SCD or beta thalassemia. American journal of hematology 2005. PMID: 16138345


  158. Wilson LS, Moskowitz JT, Acree M, Heyman MB, Harmatz P, Ferrando SJ, Folkman S. The economic burden of home care for children with HIV and other chronic illnesses. American journal of public health 2005. PMID: 15985648


  159. Harmatz P, Ketteridge D, Giugliani R, Guffon N, Teles EL, Miranda MC, Yu ZF, Swiedler SJ, Hopwood JJ, MPS VI Study Group. Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylga Pediatrics 2005. PMID: 15930196


  160. Swiedler SJ, Beck M, Bajbouj M, Giugliani R, Schwartz I, Harmatz P, Wraith JE, Roberts J, Ketteridge D, Hopwood JJ, Guffon N, Sá Miranda MC, Teles EL, Berger KI, Piscia-Nichols C. Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). American journal of medical genetics. Part A 2005. PMID: 15690405


  161. Harmatz P, Kramer WG, Hopwood JJ, Simon J, Butensky E, Swiedler SJ, Mucopolysaccharidosis VI Study Group. Pharmacokinetic profile of recombinant human N-acetylgalactosamine 4-sulphatase enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): a phase I/II study. Acta paediatrica (Oslo, Norway : 1992). Supplement 2005. PMID: 15895715


  162. Pakbaz Z, Fischer R, Treadwell M, Yamashita R, Fung EB, Calvelli L, Quirolo K, Foote D, Harmatz P, Vichinsky EP. A simple model to assess and improve adherence to iron chelation therapy with deferoxamine in patients with thalassemia. Annals of the New York Academy of Sciences 2005. PMID: 16339703


  163. Fischer R, Piga A, Harmatz P, Nielsen P. Monitoring long-term efficacy of iron chelation treatment with biomagnetic liver susceptometry. Annals of the New York Academy of Sciences 2005. PMID: 16339683


  164. Butensky E, Pakbaz Z, Foote D, Walters MC, Vichinsky EP, Harmatz P. Treatment of hepatitis C virus infection in thalassemia. Annals of the New York Academy of Sciences 2005. PMID: 16339677


  165. Butensky E, Fischer R, Hudes M, Schumacher L, Williams R, Moyer TP, Vichinsky E, Harmatz P. Variability in hepatic iron concentration in percutaneous needle biopsy specimens from patients with transfusional hemosiderosis. American journal of clinical pathology 2005. PMID: 15762291


  166. Engelhardt R, Fung EB, Kelly P, Biehl TR, Pakbaz Z, Nielsen P, Harmatz P, Fischer R. Interaction of artificial metallic objects with biosusceptometric measurements. Neurology & clinical neurophysiology : NCN 2004. PMID: 16012652


  167. Fung EB, Fischer R, Pakbaz Z, Fagaly RL, Vichinsky E, Starr TN, Ewing T, Paulson DN, Hassenzahl WV, Harmatz P. The new SQUID biosusceptometer at Oakland: first year of experience. Neurology & clinical neurophysiology : NCN 2004. PMID: 16012600


  168. Butensky E, Kennedy CM, Lee MM, Harmatz P, Miaskowski C. Potential mechanisms for altered iron metabolism in human immunodeficiency virus disease. The Journal of the Association of Nurses in AIDS Care : JANAC 2004. PMID: 15538015


  169. Heyman MB, Harmatz P, Acree M, Wilson L, Moskowitz JT, Ferrando S, Folkman S. Economic and psychologic costs for maternal caregivers of gastrostomy-dependent children. The Journal of pediatrics 2004. PMID: 15480377


  170. Harmatz P, Whitley CB, Waber L, Pais R, Steiner R, Plecko B, Kaplan P, Simon J, Butensky E, Hopwood JJ. Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). The Journal of pediatrics 2004. PMID: 15126989


  171. Karageorgos L, Harmatz P, Simon J, Pollard A, Clements PR, Brooks DA, Hopwood JJ. Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy. Human mutation 2004. PMID: 14974081


  172. Cheung AT, Harmatz P, Wun T, Chen PC, Larkin EC, Adams RJ, Vichinsky EP. Correlation of abnormal intracranial vessel velocity, measured by transcranial Doppler ultrasonography, with abnormal conjunctival vessel velocity, measured by computer-assisted intravital microscopy, in sickle cell disease. Blood 2001. PMID: 11369629


  173. Harmatz P, Butensky E, Quirolo K, Williams R, Ferrell L, Moyer T, Golden D, Neumayr L, Vichinsky E. Severity of iron overload in patients with sickle cell disease receiving chronic red blood cell transfusion therapy. Blood 2000. PMID: 10891433


  174. Vreman HJ, Wong RJ, Harmatz P, Fanaroff AA, Berman B, Stevenson DK. Validation of the Natus CO-Stat End Tidal Breath Analyzer in children and adults. Journal of clinical monitoring and computing 1999. PMID: 12578038


  175. Harmatz P, Heyman MB, Cunningham J, Lee PD, Styles L, Quirolo K, Kopp-Hoolihan L, Ghiron J, Hintz RL, Vichinsky E. Effects of red blood cell transfusion on resting energy expenditure in adolescents with sickle cell anemia. Journal of pediatric gastroenterology and nutrition 1999. PMID: 10435647


  176. Capano G, Bloch KJ, Carter EA, Dascoli JA, Schoenfeld D, Harmatz PR. Polyamines in human and rat milk influence intestinal cell growth in vitro. Journal of pediatric gastroenterology and nutrition 1998. PMID: 9740197


  177. Cunningham JJ, Lydon MK, Emerson R, Harmatz PR. Low ceruloplasmin levels during recovery from major burn injury: influence of open wound size and copper supplementation. Nutrition (Burbank, Los Angeles County, Calif.) 1996. PMID: 8724377


  178. Cunningham J, Leffell M, Mearkle P, Harmatz P. Elevated plasma ceruloplasmin in insulin-dependent diabetes mellitus: evidence for increased oxidative stress as a variable complication. Metabolism: clinical and experimental 1995. PMID: 7637657


  179. Capano G, Bloch KJ, Schiffrin EJ, Dascoli JA, Israel EJ, Harmatz PR. Influence of the polyamine, spermidine, on intestinal maturation and dietary antigen uptake in the neonatal rat. Journal of pediatric gastroenterology and nutrition 1994. PMID: 7965474


  180. Sanderson IR, Ouellette AJ, Carter EA, Harmatz PR. Ontogeny of Ia messenger RNA in the mouse small intestinal epithelium is modulated by age of weaning and diet. Gastroenterology 1993. PMID: 8405883


  181. Cunningham JJ, Leffell M, Harmatz P. Burn severity, copper dose, and plasma ceruloplasmin in burned children during total parenteral nutrition. Nutrition (Burbank, Los Angeles County, Calif.) 1993. PMID: 8400588


  182. Sanderson IR, Ouellette AJ, Carter EA, Walker WA, Harmatz PR. Differential regulation of B7 mRNA in enterocytes and lymphoid cells. Immunology 1993. PMID: 7691725


  183. Harmatz PR, Carrington PW, Giovino-Barry V, Hatz RA, Bloch KJ. Intestinal adaptation during lactation in the mouse. II. Altered intestinal processing of a dietary protein. The American journal of physiology 1993. PMID: 8333541


  184. Sanderson IR, Ouellette AJ, Carter EA, Harmatz PR. Ontogeny of class II MHC mRNA in the mouse small intestinal epithelium. Molecular immunology 1992. PMID: 1326714


  185. Cappeller WA, Bloch KJ, Fagundes J, Carter EA, Sullivan D, Harmatz PR. Effect of thermal injury on transfer of IR22 IgA myeloma protein into bile in the rat. Liver 1992. PMID: 1501516


  186. Cappeller WA, Bloch KJ, Hatz RA, Carter EA, Fagundes J, Sullivan DA, Harmatz PR. Reduction in biliary IgA after burn injury. Role of diminished delivery via the thoracic duct and of enhanced loss from the systemic circulation. Annals of surgery 1992. PMID: 1558414


  187. Hughes A, Bloch KJ, Bhan AK, Gillen D, Giovino VC, Harmatz PR. Expression of MHC class II (Ia) antigen by the neonatal enterocyte: the effect of treatment with interferon-gamma. Immunology 1991. PMID: 1903764


  188. Russell GJ, Harmatz PR. Major histocompatibility complex class II expression on enterocytes: to present or not to present. Gastroenterology 1991. PMID: 1983833


  189. Murphy MS, Bloch KJ, Giovino V, Harmatz PR. Transfer of enterally administered proteins from lactating mouse to neonate: the potential role of environmental contamination. Advances in experimental medicine and biology 1991. PMID: 1725571


  190. Hatz RA, Bloch KJ, Harmatz PR, Gonnella PA, Ariniello PD, Walker WA, Kleinman RE. Divalent hapten-induced intestinal anaphylaxis in the mouse enhances macromolecular uptake from the stomach. Gastroenterology 1990. PMID: 2107115


  191. Kleinman RE, Harmatz PR, Hatz RA, Brown M, Ariniello PD, Walker WA, Bloch KJ. Divalent hapten-induced intestinal anaphylaxis in the mouse: uptake and characterization of a bystander protein. Immunology 1989. PMID: 2514138


  192. Harmatz PR, Carter EA, Sullivan D, Hatz RA, Baker R, Breazeale E, Grant K, Bloch KJ. Effect of thermal injury in the rat on transfer of IgA protein into bile. Annals of surgery 1989. PMID: 2757421


  193. Gonnella PA, Harmatz P, Walker WA. Prolactin is transported across the epithelium of the jejunum and ileum of the suckling rat. Journal of cellular physiology 1989. PMID: 2738108


  194. Harmatz PR, Bloch KJ, Brown M, Walker WA, Kleinman RE. Intestinal adaptation during lactation in the mouse. I. Enhanced intestinal uptake of dietary protein antigen. Immunology 1989. PMID: 2737698


  195. Harmatz PR, Bloch KJ. Transfer of dietary protein in breast milk. Annals of allergy 1988. PMID: 3061317


  196. Harmatz PR, Walsh MK, Walker WA, Hanson DG, Bloch KJ. Trichloroacetic acid (TCA) precipitability of 125I in the blood of mice fed 125I. Journal of immunological methods 1987. PMID: 3655373


  197. Israel EJ, Pang KY, Harmatz PR, Walker WA. Structural and functional maturation of rat gastrointestinal barrier with thyroxine. The American journal of physiology 1987. PMID: 3035939


  198. Carter EA, Harmatz PR, Udall JN, Walker WA. Barrier defense function of the small intestine: effect of ethanol and acute burn trauma. Advances in experimental medicine and biology 1987. PMID: 3687557


  199. Seo JK, Grant KE, Sullivan DA, Hanson DG, Bloch KJ, Harmatz PR, Walker WA. Biliary IgA content following common duct cannulation in the rat. Advances in experimental medicine and biology 1987. PMID: 3425421


  200. Harmatz PR, Hanson DG, Walsh MK, Kleinman RE, Bloch KJ, Walker WA. Clearance, localization and catabolism of intravenously administered protein antigens in lactating mice. Advances in experimental medicine and biology 1987. PMID: 2446468


  201. Harmatz PR, Hanson DG, Walsh MK, Kleinman RE, Bloch KJ, Walker WA. Transfer of protein antigens into milk after intravenous injection into lactating mice. The American journal of physiology 1986. PMID: 2426966


  202. Harmatz PR, Bloch KJ, Kleinman RE, Walsh MK, Walker WA. Influence of circulating maternal antibody on the transfer of dietary antigen to neonatal mice via milk. Immunology 1986. PMID: 3943877


  203. Stern M, Harmatz PR, Kleinman RE, Walker WA. Food proteins and gut mucosal barrier. III. The influence of lactation and prolactin on the in vitro binding and uptake of bovine serum albumin and ovalbumin in the rat jejunum. Pediatric research 1985. PMID: 3982893


  204. Papanicolaou N, Harmatz P, Simeone JF, Truman JT, Ferrucci JT. Sonographic demonstration of reversible portal vein thrombosis following splenectomy in an adolescent. Journal of clinical ultrasound : JCU 1984. PMID: 6439752


  205. Harmatz PR, Kleinman RE, Bunnell BW, McClenathan DT, Walker WA, Bloch KJ. The effect of bile duct obstruction on the clearance of circulating IgA immune complexes. Hepatology (Baltimore, Md.) 1984. PMID: 6693069


  206. Kleinman RE, Harmatz PR, Jacobson LA, Udall JN, Bloch KJ, Walker WA. Passive transplacental immunization: influence on the detection of enteric antigen in the systemic circulation. Pediatric research 1983. PMID: 6877896


  207. Harmatz PR, Kleinman RE, Bunnell BW, Bloch KJ, Walker WA. Hepatobiliary clearance of IgA immune complexes formed in the circulation. Hepatology (Baltimore, Md.) 1982. PMID: 7076115


  208. Kleinman RE, Harmatz PR, Walker WA. The liver: an integral part of the enteric mucosal immune system. Hepatology (Baltimore, Md.) 1982. PMID: 7042507


  209. Seidel JS, Harmatz P, Visvesvara GS, Cohen A, Edwards J, Turner J. Successful treatment of primary amebic meningoencephalitis. The New England journal of medicine 1982. PMID: 7054710


  210. Kessler S, Harmatz P, Gerling SA. The genetics of pheromonally mediated aggression in mice. I. Strain difference in the capacity of male urinary odors to elicit aggression. Behavior genetics 1975. PMID: 1169056


  211. Harmatz P, Boelkins RC, Kessler S. Postisolation aggression and olfactory cues. Behavioral biology 1975. PMID: 1168455