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Reversed papilledema in an MPS VI patient with galsulfase (Naglazyme<sup>®</sup>) therapy.
- Published in:
- 2009
- By:
- Publication type:
- Report
Prolactin is transported across the epithelium of the jejunum and ileum of the suckling rat.
- Published in:
- Journal of Cellular Physiology, 1989, v. 140, n. 1, p. 138, doi. 10.1002/jcp.1041400117
- By:
- Publication type:
- Article
Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-155
- By:
- Publication type:
- Article
Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Mucopolysaccharidosis VI.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Mucopolysaccharidosis VI.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 5, doi. 10.1186/1750-1172-5-5
- By:
- Publication type:
- Article
Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 301, doi. 10.1002/ajmg.a.38551
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- Publication type:
- Article
Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 375, doi. 10.1002/ajmg.a.38014
- By:
- Publication type:
- Article
Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2272, doi. 10.1002/ajmg.a.37172
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- Publication type:
- Article
International guidelines for the management and treatment of Morquio A syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 11, doi. 10.1002/ajmg.a.36833
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- Publication type:
- Article
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.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 1953, doi. 10.1002/ajmg.a.36584
- By:
- Publication type:
- Article
Mechanisms of plasma non-transferrin bound iron generation: insights from comparing transfused diamond blackfan anaemia with sickle cell and thalassaemia patients.
- Published in:
- British Journal of Haematology, 2014, v. 167, n. 5, p. 692, doi. 10.1111/bjh.13081
- By:
- Publication type:
- Article
Spinal cord issues in adult patients with MPS: transition of care survey.
- Published in:
- Child's Nervous System, 2018, v. 34, n. 9, p. 1759, doi. 10.1007/s00381-018-3834-6
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- Publication type:
- Article
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.
- Published in:
- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0067052
- By:
- Publication type:
- Article
A Simple Model to Assess and Improve Adherence to Iron Chelation Therapy with Deferoxamine in Patients with Thalassemia.
- Published in:
- Annals of the New York Academy of Sciences, 2005, v. 1054, n. 1, p. 486, doi. 10.1196/annals.1345.065
- By:
- Publication type:
- Article
Monitoring Long-Term Efficacy of Iron Chelation Treatment with Biomagnetic Liver Susceptometry.
- Published in:
- Annals of the New York Academy of Sciences, 2005, v. 1054, n. 1, p. 350, doi. 10.1196/annals.1345.043
- By:
- Publication type:
- Article
Treatment of Hepatitis C Virus Infection in Thalassemia.
- Published in:
- Annals of the New York Academy of Sciences, 2005, v. 1054, n. 1, p. 290, doi. 10.1196/annals.1345.038
- By:
- Publication type:
- Article
Effects of red blood cell transfusion on resting energy expenditure in adolescents with sickle cell anemia.
- Published in:
- 1999
- By:
- Publication type:
- journal article
Polyamines in human and rat milk influence intestinal cell growth in vitro.
- Published in:
- 1998
- By:
- Publication type:
- journal article
Sonographic Demonstration of Reversible Portal Vein Thrombosis Following Splenectomy in an Adolescent.
- Published in:
- Journal of Clinical Ultrasound, 1984, v. 12, n. 9, p. 575, doi. 10.1002/jcu.1870120909
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- Publication type:
- Article
Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02805-3
- By:
- Publication type:
- Article
Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 49, n. 1, p. 53, doi. 10.1002/jmd2.12043
- By:
- Publication type:
- Article
Fetal therapies and trials for lysosomal storage diseases: a survey of attitudes of parents and patients.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): defining and measuring functional impacts in pediatric patients.
- Published in:
- 2021
- By:
- Publication type:
- journal article
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).
- Published in:
- 2021
- By:
- Publication type:
- journal article
Assessing the impact of the five senses on quality of life in mucopolysaccharidoses.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Persistent bone and joint disease despite current treatments for mucopolysaccharidosis types I, II, and VI: Data from a 10‐year prospective study.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 695, doi. 10.1002/jimd.12598
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- Publication type:
- Article
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.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1463, doi. 10.1002/jimd.12428
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- Publication type:
- Article
Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. 519, doi. 10.1002/jimd.12079
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- Publication type:
- Article
Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 6, p. 839, doi. 10.1007/s10545-016-9973-6
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- Publication type:
- Article
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.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 6, p. 979, doi. 10.1007/s10545-014-9715-6
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- Publication type:
- Article
Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 2, p. 277, doi. 10.1007/s10545-013-9654-7
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- Publication type:
- Article
Craniocervical decompression in patients with mucopolysaccharidosis VI: development of a scoring system to determine indication and outcome of surgery.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 1005, doi. 10.1007/s10545-013-9591-5
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- Publication type:
- Article
Diagnosing mucopolysaccharidosis IVA.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 293, doi. 10.1007/s10545-013-9587-1
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- Publication type:
- Article
Anaesthesia and airway management in mucopolysaccharidosis.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 211, doi. 10.1007/s10545-012-9563-1
- By:
- Publication type:
- Article
Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP).
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 373, doi. 10.1007/s10545-011-9410-9
- By:
- Publication type:
- Article
Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 339, doi. 10.1007/s10545-013-9586-2
- By:
- Publication type:
- Article
Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1183, doi. 10.1007/s10545-011-9359-8
- By:
- Publication type:
- Article
Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 51, doi. 10.1007/s10545-009-9007-8
- By:
- Publication type:
- Article
Ocular manifestations in patients with mucopolysaccharidosis: what do we know and how can we treat?
- Published in:
- Clinical & Experimental Ophthalmology, 2010, v. 38, p. 1, doi. 10.1111/j.1442-9071.2010.02362.x
- By:
- Publication type:
- Article
Systemic therapies for mucopolysaccharidosis: ocular changes following haematopoietic stem cell transplantation or enzyme replacement therapy – a review.
- Published in:
- Clinical & Experimental Ophthalmology, 2010, v. 38, p. 34, doi. 10.1111/j.1442-9071.2010.02366.x
- By:
- Publication type:
- Article
Pharmacokinetics of Sapropterin in Patients with Phenylketonuria.
- Published in:
- Clinical Pharmacokinetics, 2008, v. 47, n. 12, p. 817, doi. 10.2165/0003088-200847120-00006
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- Publication type:
- Article
Disparity in the management of iron overload between patients with sickle cell disease and thalassemia who received transfusions.
- Published in:
- Transfusion, 2008, v. 48, n. 9, p. 1971, doi. 10.1111/j.1537-2995.2008.01775.x
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- Publication type:
- Article
Exercise performance in thalassemia major: Correlation with cardiac iron burden.
- Published in:
- American Journal of Hematology, 2013, v. 88, n. 3, p. 193, doi. 10.1002/ajh.23370
- By:
- Publication type:
- Article
Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase.
- Published in:
- American Journal of Hematology, 2013, v. 88, n. 3, p. 172, doi. 10.1002/ajh.23383
- By:
- Publication type:
- Article
Electrocardiographic consequences of cardiac iron overload in thalassemia major.
- Published in:
- American Journal of Hematology, 2012, v. 87, n. 2, p. 139, doi. 10.1002/ajh.22205
- By:
- Publication type:
- Article
Follow-up report on the 2-year cardiac data from a deferasirox monotherapy trial.
- Published in:
- American Journal of Hematology, 2010, v. 85, n. 10, p. 818, doi. 10.1002/ajh.21830
- By:
- Publication type:
- Article
Patterns of hepatic iron distribution in patients with chronically transfused thalassemia and sickle cell disease.
- Published in:
- American Journal of Hematology, 2009, v. 84, n. 8, p. 480, doi. 10.1002/ajh.21456
- By:
- Publication type:
- Article
Morbidity and mortality in chronically transfused subjects with thalassemia and sickle cell disease: A report from the multi-center study of iron overload.
- Published in:
- American Journal of Hematology, 2007, v. 82, n. 4, p. 255, doi. 10.1002/ajh.20809
- By:
- Publication type:
- Article