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