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Mucopolysaccharidosis I: management and treatment guidelines

Pediatrics (Evanston), 2009-01, Vol.123 (1), p.19

2009

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Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

Lancet neurology, 2007-09, Vol.6 (9), p.765-772

2007

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Management guidelines for mucopolysaccharidosis VI

Pediatrics (Evanston), 2007-08, Vol.120 (2), p.405

2007

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Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

Orphanet journal of rare diseases, 2011-11, Vol.6 (1), p.72-72, Article 72

2011

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Recommendations on the diagnosis and management of Niemann-Pick disease type C

Molecular genetics and metabolism, 2009-10, Vol.98 (1), p.152-165

2009

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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, 2014-08, Vol.164A (8), p.1953-1964

2014

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Idursulfase treatment of Hunter syndrome in children younger than 6 years: Results from the Hunter Outcome Survey

Genetics in medicine, 2011-02, Vol.13 (2), p.102-109

2011

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Natural history of alpha mannosidosis a longitudinal study

Orphanet journal of rare diseases, 2013-06, Vol.8 (1), p.88-88

2013

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Mutations in VPS33B , encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

Nature genetics, 2004-04, Vol.36 (4), p.400-404

2004

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New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat

Therapeutics and clinical risk management, 2009, Vol.5 (default), p.877-887

2009

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Enzyme replacement therapy with laronidase (Aldurazyme) for treating mucopolysaccharidosis type I

Cochrane database of systematic reviews, 2013-09 (9), p.CD009354-CD009354

2013

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Mutational analysis of 105 mucopolysaccharidosis type VI patients

Human mutation, 2007-09, Vol.28 (9), p.897-903

2007

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The cblD Defect Causes Either Isolated or Combined Deficiency of Methylcobalamin and Adenosylcobalamin Synthesis

The Journal of biological chemistry, 2004-10, Vol.279 (41), p.42742-42749

2004

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Miglustat in adult and juvenile patients with Niemann–Pick disease type C: Long-term data from a clinical trial

Molecular genetics and metabolism, 2010-04, Vol.99 (4), p.351-357

2010

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Does early use of enzyme replacement therapy alter the natural history of mucopolysaccharidosis I? Experience in three siblings

Molecular genetics and metabolism, 2013-07, Vol.109 (3), p.315-316

2013

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Airway-Related Symptoms and Surgeries in Patients With Mucopolysaccharidosis I

Annals of otology, rhinology & laryngology, 2015-03, Vol.124 (3), p.198-205

2015

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Long-Term Miglustat Therapy in Children With Niemann-Pick Disease Type C

Journal of child neurology, 2010-03, Vol.25 (3), p.300-305

2010

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A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)

Genetics in medicine, 2006-08, Vol.8 (8), p.465-473

2006

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Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome

Genetics in medicine, 2011-02, Vol.13 (2), p.95-101

2011

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Enzyme replacement therapy with laronidase (Aldurazyme(®)) for treating mucopolysaccharidosis type I

Cochrane database of systematic reviews, 2013-11 (11), p.CD009354-CD009354

2013

Volltextzugriff (PDF)

Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-L-iduronidase (laronidase)

The Journal of pediatrics, 2004-05, Vol.144 (5), p.581-588

2004

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Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker

The Journal of clinical investigation, 2014-03, Vol.124 (3), p.1320-1328

2014

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Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations

Journal of inherited metabolic disease, 2014-01, Vol.37 (1), p.93-101

2014

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Mucopolysaccharidosis I: management and treatment guidelines

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

Management guidelines for mucopolysaccharidosis VI

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

Recommendations on the diagnosis and management of Niemann-Pick disease type C

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

Idursulfase treatment of Hunter syndrome in children younger than 6 years: Results from the Hunter Outcome Survey

Natural history of alpha mannosidosis a longitudinal study

Mutations in VPS33B , encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat

Enzyme replacement therapy with laronidase (Aldurazyme) for treating mucopolysaccharidosis type I

Mutational analysis of 105 mucopolysaccharidosis type VI patients

Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease

The cblD Defect Causes Either Isolated or Combined Deficiency of Methylcobalamin and Adenosylcobalamin Synthesis

Miglustat in adult and juvenile patients with Niemann–Pick disease type C: Long-term data from a clinical trial

Does early use of enzyme replacement therapy alter the natural history of mucopolysaccharidosis I? Experience in three siblings

Airway-Related Symptoms and Surgeries in Patients With Mucopolysaccharidosis I

Long-Term Miglustat Therapy in Children With Niemann-Pick Disease Type C

A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)

Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome

Enzyme replacement therapy with laronidase (Aldurazyme(®)) for treating mucopolysaccharidosis type I

Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-L-iduronidase (laronidase)

Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker

Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations

Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1

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