Paul Harmatz, MD

  1. Chemically modified recombinant human sulfamidase (SOBI003) in mucopolysaccharidosis IIIA patients: Results from an open, non-controlled, multicenter study.
  2. Longitudinal natural history of pediatric subjects affected with mucopolysaccharidosis IIIB.
  3. RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A.
  4. Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies.
  5. Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair.
  6. Fetal therapies and trials for lysosomal storage diseases: a survey of attitudes of parents and patients.
  7. Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I.
  8. Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): defining and measuring functional impacts in pediatric patients.
  9. 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).
  10. 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.
  11. Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study.
  12. Long-term outcomes of patients with mucopolysaccharidosis VI treated with galsulfase enzyme replacement therapy since infancy.
  13. Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial.
  14. Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints.
  15. 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].
  16. ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.
  17. Assessing the impact of the five senses on quality of life in mucopolysaccharidoses.
  18. The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII.
  19. Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study.
  20. Enzyme replacement therapy initiated in adulthood: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program.
  21. Efficacy and Safety of Asfotase Alfa in Infants and Young Children With Hypophosphatasia: A Phase 2 Open-Label Study.
  22. Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population.
  23. C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia.
  24. Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance.
  25. Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance.
  26. Attention and corpus callosum volumes in individuals with mucopolysaccharidosis type I.
  27. Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program.
  28. Spinal cord issues in adult patients with MPS: transition of care survey.
  29. Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis.
  30. Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis.
  31. Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B.
  32. Risks of long-term port use in enzyme replacement therapy for lysosomal storage disorders.
  33. A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease.
  34. Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).
  35. 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.
  36. 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.
  37. Surgical management of neurological manifestations of mucopolysaccharidosis disorders.
  38. Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa.
  39. Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure.
  40. Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry.
  41. The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
  42. Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients.
  43. Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment.
  44. Long-term Immunogenicity of Elosulfase Alfa in the Treatment of Morquio A Syndrome: Results From MOR-005, a Phase III Extension Study.
  45. Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study.
  46. Pregnancy in patients with mucopolysaccharidosis: a case series.
  47. Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome.
  48. Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome.
  49. Cervical cord compression in mucopolysaccharidosis VI (MPS VI): Findings from the MPS VI Clinical Surveillance Program (CSP).
  50. The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS).
  51. Implementing evidence-driven individualized treatment plans within Morquio A Syndrome.
  52. Safety and clinical activity of elosulfase alfa in pediatric patients with Morquio A syndrome (mucopolysaccharidosis IVA) less than 5 y.
  53. Data from subjects receiving intrathecal laronidase for cervical spinal stenosis due to mucopolysaccharidosis type I.
  54. Enzyme Replacement Therapies and Immunogenicity in Lysosomal Storage Diseases: Is There a Pattern?
  55. Safety of laronidase delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis I.
  56. Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment.
  57. Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study.
  58. Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase.
  59. Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome).
  60. Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II.
  61. Pulmonary hypertension in well-transfused thalassemia major patients.
  62. Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome.
  63. International guidelines for the management and treatment of Morquio A syndrome.
  64. Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database.
  65. Mechanisms of plasma non-transferrin bound iron generation: insights from comparing transfused diamond blackfan anaemia with sickle cell and thalassaemia patients.
  66. Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial.
  67. Orthopedic management of the extremities in patients with Morquio A syndrome.
  68. 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.
  69. 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.
  70. 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.
  71. Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI.
  72. Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure.
  73. Immune response to intrathecal enzyme replacement therapy in mucopolysaccharidosis I patients.
  74. 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.
  75. Development of a Scoring System to Evaluate the Severity of Craniocervical Spinal Cord Compression in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome).
  76. Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA.
  77. The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS).
  78. Craniocervical decompression in patients with mucopolysaccharidosis VI: development of a scoring system to determine indication and outcome of surgery.
  79. The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects.
  80. Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management.
  81. Diagnosing mucopolysaccharidosis IVA.
  82. Exercise performance in thalassemia major: correlation with cardiac iron burden.
  83. Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase.
  84. Increased leucocyte apoptosis in transfused ß-thalassaemia patients.
  85. Anaesthesia and airway management in mucopolysaccharidosis.
  86. Combined chelation therapy with deferasirox and deferoxamine in thalassemia.
  87. A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI.
  88. Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy.
  89. Expert recommendations for the laboratory diagnosis of MPS VI.
  90. A phase 2 study of the safety, tolerability, and pharmacodynamics of FBS0701, a novel oral iron chelator, in transfusional iron overload.
  91. Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP).
  92. Electrocardiographic consequences of cardiac iron overload in thalassemia major.
  93. The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus.
  94. Iron chelation therapy in thalassemia major: a systematic review with meta-analyses of 1520 patients included on randomized clinical trials.
  95. Pulmonary function in thalassaemia major and its correlation with body iron stores.
  96. Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management.
  97. Relationship between labile plasma iron, liver iron concentration and cardiac response in a deferasirox monotherapy trial.
  98. Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome.
  99. A phase 1 dose-escalation study: safety, tolerability, and pharmacokinetics of FBS0701, a novel oral iron chelator for the treatment of transfusional iron overload.
  100. Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey.
  101. Follow-up report on the 2-year cardiac data from a deferasirox monotherapy trial.
  102. Diagnosis and management of ophthalmological features in patients with mucopolysaccharidosis.
  103. Enzyme replacement therapy with galsulfase for mucopolysaccharidosis VI: clinical facts and figures.
  104. Management of chronic viral hepatitis in patients with thalassemia: recommendations from an international panel.
  105. The effect of deferasirox on cardiac iron in thalassemia major: impact of total body iron stores.
  106. Mucopolysaccharidosis VI.
  107. Elevated exhaled carbon monoxide concentration in hemoglobinopathies and its relation to red blood cell transfusion therapy.
  108. Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.
  109. Assessment of cardiac iron by MRI susceptometry and R2* in patients with thalassemia.
  110. Bone density assessment in patients with mucopolysaccharidosis: A preliminary report from patients with MPS II and VI.
  111. Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.
  112. Orthopedic management of mucopolysaccharide disease.
  113. Iron metabolism and iron chelation in sickle cell disease.
  114. Multidisciplinary management of Hunter syndrome.
  115. Patterns of hepatic iron distribution in patients with chronically transfused thalassemia and sickle cell disease.
  116. Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study.
  117. Altered iron metabolism in children with human immunodeficiency virus disease.
  118. Non-invasive assessment of tissue iron overload.
  119. Folate concentrations in pediatric patients with newly diagnosed inflammatory bowel disease.
  120. Italian Society of Hematology guidelines for thalassemia and non-invasive iron measurements.
  121. Vitamin C treatment reduces elevated C-reactive protein.
  122. Safety and efficacy of pegylated interferon alpha-2a and ribavirin for the treatment of hepatitis C in patients with thalassemia.
  123. Disparity in the management of iron overload between patients with sickle cell disease and thalassemia who received transfusions.
  124. 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.
  125. Inflammation and oxidant-stress in beta-thalassemia patients treated with iron chelators deferasirox (ICL670) or deferoxamine: an ancillary study of the Novartis CICL670A0107 trial.
  126. Reversed papilledema in an MPS VI patient with galsulfase (Naglazyme) therapy.
  127. The effect of vitamins C and E on biomarkers of oxidative stress depends on baseline level.
  128. Fracture prevalence and relationship to endocrinopathy in iron overloaded patients with sickle cell disease and thalassemia.
  129. Entering a new treatment age for mucopolysaccharidosis VI disease: a search for better markers of disease progression and response to treatment.
  130. 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.
  131. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome).
  132. Transfusional iron burden and liver toxicity after bone marrow transplantation for acute myelogenous leukemia and hemoglobinopathies.
  133. Pharmacokinetics of sapropterin in patients with phenylketonuria.
  134. Mutational analysis of 105 mucopolysaccharidosis type VI patients.
  135. Serum ferritin underestimates liver iron concentration in transfusion independent thalassemia patients as compared to regularly transfused thalassemia and sickle cell patients.
  136. Management guidelines for mucopolysaccharidosis VI.
  137. Phase Ib clinical trial of starch-conjugated deferoxamine (40SD02): a novel long-acting iron chelator.
  138. Iron homeostasis during transfusional iron overload in beta-thalassemia and sickle cell disease: changes in iron regulatory protein, hepcidin, and ferritin expression.
  139. Morbidity and mortality in chronically transfused subjects with thalassemia and sickle cell disease: A report from the multi-center study of iron overload.
  140. Cytogenetic damage in blood lymphocytes and exfoliated epithelial cells of children with inflammatory bowel disease.
  141. Caregiving time in sickle cell disease: psychological effects in maternal caregivers.
  142. Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy.
  143. Increased prevalence of iron-overload associated endocrinopathy in thalassaemia versus sickle-cell disease.
  144. Oxidative stress and inflammation in iron-overloaded patients with beta-thalassaemia or sickle cell disease.
  145. Does liver biopsy overestimate liver iron concentration?
  146. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome).
  147. Does liver biopsy overestimate liver iron concentration?
  148. 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
  149. Comparison of organ dysfunction in transfused patients with SCD or beta thalassemia.
  150. The economic burden of home care for children with HIV and other chronic illnesses.
  151. 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
  152. 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).
  153. 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.
  154. A simple model to assess and improve adherence to iron chelation therapy with deferoxamine in patients with thalassemia.
  155. Monitoring long-term efficacy of iron chelation treatment with biomagnetic liver susceptometry.
  156. Treatment of hepatitis C virus infection in thalassemia.
  157. Variability in hepatic iron concentration in percutaneous needle biopsy specimens from patients with transfusional hemosiderosis.
  158. Interaction of artificial metallic objects with biosusceptometric measurements.
  159. The new SQUID biosusceptometer at Oakland: first year of experience.
  160. Potential mechanisms for altered iron metabolism in human immunodeficiency virus disease.
  161. Economic and psychologic costs for maternal caregivers of gastrostomy-dependent children.
  162. Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
  163. Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy.
  164. Bioelectrical impedance analysis of the body composition of children and adolescents with sickle cell disease.
  165. Characterization of glycated hemoglobin in diabetic patients: usefulness of electrospray mass spectrometry in monitoring the extent and distribution of glycation.
  166. 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.
  167. Severity of iron overload in patients with sickle cell disease receiving chronic red blood cell transfusion therapy.
  168. Validation of the Natus CO-Stat End Tidal Breath Analyzer in children and adults.
  169. Effects of red blood cell transfusion on resting energy expenditure in adolescents with sickle cell anemia.
  170. Polyamines in human and rat milk influence intestinal cell growth in vitro.
  171. Low ceruloplasmin levels during recovery from major burn injury: influence of open wound size and copper supplementation.
  172. Elevated plasma ceruloplasmin in insulin-dependent diabetes mellitus: evidence for increased oxidative stress as a variable complication.
  173. Influence of the polyamine, spermidine, on intestinal maturation and dietary antigen uptake in the neonatal rat.
  174. Ontogeny of Ia messenger RNA in the mouse small intestinal epithelium is modulated by age of weaning and diet.
  175. Burn severity, copper dose, and plasma ceruloplasmin in burned children during total parenteral nutrition.
  176. Differential regulation of B7 mRNA in enterocytes and lymphoid cells.
  177. Intestinal adaptation during lactation in the mouse. II. Altered intestinal processing of a dietary protein.
  178. Ontogeny of class II MHC mRNA in the mouse small intestinal epithelium.
  179. Effect of thermal injury on transfer of IR22 IgA myeloma protein into bile in the rat.
  180. Reduction in biliary IgA after burn injury. Role of diminished delivery via the thoracic duct and of enhanced loss from the systemic circulation.
  181. Expression of MHC class II (Ia) antigen by the neonatal enterocyte: the effect of treatment with interferon-gamma.
  182. Major histocompatibility complex class II expression on enterocytes: to present or not to present.
  183. Transfer of enterally administered proteins from lactating mouse to neonate: the potential role of environmental contamination.
  184. Divalent hapten-induced intestinal anaphylaxis in the mouse enhances macromolecular uptake from the stomach.
  185. Divalent hapten-induced intestinal anaphylaxis in the mouse: uptake and characterization of a bystander protein.
  186. Effect of thermal injury in the rat on transfer of IgA protein into bile.
  187. Prolactin is transported across the epithelium of the jejunum and ileum of the suckling rat.
  188. Intestinal adaptation during lactation in the mouse. I. Enhanced intestinal uptake of dietary protein antigen.
  189. Transfer of dietary protein in breast milk.
  190. Trichloroacetic acid (TCA) precipitability of 125I in the blood of mice fed 125I.
  191. Structural and functional maturation of rat gastrointestinal barrier with thyroxine.
  192. Barrier defense function of the small intestine: effect of ethanol and acute burn trauma.
  193. Biliary IgA content following common duct cannulation in the rat.
  194. Clearance, localization and catabolism of intravenously administered protein antigens in lactating mice.
  195. Transfer of protein antigens into milk after intravenous injection into lactating mice.
  196. Influence of circulating maternal antibody on the transfer of dietary antigen to neonatal mice via milk.
  197. 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.
  198. Sonographic demonstration of reversible portal vein thrombosis following splenectomy in an adolescent.
  199. The effect of bile duct obstruction on the clearance of circulating IgA immune complexes.
  200. Passive transplacental immunization: influence on the detection of enteric antigen in the systemic circulation.
  201. Hepatobiliary clearance of IgA immune complexes formed in the circulation.
  202. The liver: an integral part of the enteric mucosal immune system.
  203. Successful treatment of primary amebic meningoencephalitis.
  204. The genetics of pheromonally mediated aggression in mice. I. Strain difference in the capacity of male urinary odors to elicit aggression.
  205. Postisolation aggression and olfactory cues.