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

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

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

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

National Lipid Association Recommendations for Patient-Centered Management of Dyslipidemia: Part 1—Full Report

(2015) Terry A. Jacobson et al.   Journal of Clinical Lipidology

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

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

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

Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B

(2012) Melissa Wasserstein et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Small Molecule Inhibitors of Acid Sphingomyelinase

(2010) Christoph Arenz   CELLULAR PHYSIOLOGY AND BIOCHEMISTRY

Plasma chitotriosidase and CCL18 as surrogate markers for granulomatous macrophages in sarcoidosis

(2009) Rolf G. Boot et al.   CLINICA CHIMICA ACTA

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

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