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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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Mucopolysaccharidosis I: management and treatment guidelines

Pediatrics (Evanston), 2009-01, Vol.123 (1), p.19-29

2009

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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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Management guidelines for mucopolysaccharidosis VI

Pediatrics (Evanston), 2007-08, Vol.120 (2), p.405-418

2007

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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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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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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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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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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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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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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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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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Assessment of sleep in children with mucopolysaccharidosis type III

PloS one, 2014-02, Vol.9 (2), p.e84128-e84128

2014

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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

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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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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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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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Mutational analysis of 105 mucopolysaccharidosis type VI patients

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

2007

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

Mucopolysaccharidosis I: management and treatment guidelines

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

Management guidelines for mucopolysaccharidosis VI

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

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

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

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

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

Natural history of alpha mannosidosis a longitudinal study

Airway-Related Symptoms and Surgeries in Patients With Mucopolysaccharidosis I

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

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

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

Assessment of sleep in children with mucopolysaccharidosis type III

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)

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

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

Mutational analysis of 105 mucopolysaccharidosis type VI patients

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

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