One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency

Lysosomal Glycosphingolipid Storage Diseases

(2019) Bernadette Breiden et al.   Annual Review of Biochemistry

Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months

(2018) Melissa P. Wasserstein et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Types A and B Niemann-Pick disease

(2017) Edward H. Schuchman et al.   MOLECULAR GENETICS AND METABOLISM

Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)

(2017) Margaret M. McGovern et al.   Orphanet Journal of Rare Diseases

French practical guidelines for the diagnosis and management of idiopathic pulmonary fibrosis – 2017 update. Full-length version

(2017) V. Cottin et al.   REVUE DES MALADIES RESPIRATOIRES

Hepatic inflammatory cytokine production can be regulated by modulating sphingomyelinase and ceramide synthase 6

(2016) Min Hee Kim et al.   INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE

Pulmonary Involvement in Niemann–Pick Disease: A State-of-the-Art Review

(2016) Felipe Mussi von Ranke et al.   LUNG

Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases

(2016) David Cassiman et al.   MOLECULAR GENETICS AND METABOLISM

Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening

(2015) Sandra D.K. Kingma et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann–Pick disease type B (acid sphingomyelinase deficiency)

(2015) Margaret M. McGovern et al.   GENETICS IN MEDICINE

Connective Tissue Disease-associated Interstitial Lung Diseases (CTD-ILD) -- Report from OMERACT CTD-ILD Working Group

(2015) D. Khanna et al.   JOURNAL OF RHEUMATOLOGY

Nonclinical safety assessment of recombinant human acid sphingomyelinase (rhASM) for the treatment of acid sphingomyelinase deficiency: The utility of animal models of disease in the toxicological evaluation of potential therapeutics

(2015) James M. Murray et al.   MOLECULAR GENETICS AND METABOLISM

Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency

(2015) Melissa P. Wasserstein et al.   MOLECULAR GENETICS AND METABOLISM

Sphingolipid metabolites in inflammatory disease

(2014) Michael Maceyka et al.   NATURE

Morbidity and mortality in type B Niemann–Pick disease

(2013) Margaret M. McGovern et al.   GENETICS IN MEDICINE

Lyso-sphingomyelin is elevated in dried blood spots of Niemann–Pick B patients

(2013) Wei-Lien Chuang et al.   MOLECULAR GENETICS AND METABOLISM

Death rates in the U.S. due to Krabbe disease and related leukodystrophy and lysosomal storage diseases

(2012) Amy L. Barczykowski et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A Prospective, Cross-sectional Survey Study of the Natural History of Niemann-Pick Disease Type B

(2008) M. M. McGovern et al.   PEDIATRICS