Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency

Glucosylsphingosine is a key biomarker of Gaucher disease

(2016) Vagishwari Murugesan et al.   AMERICAN JOURNAL OF HEMATOLOGY

Clinical evaluation of chitotriosidase enzyme activity in Gaucher and Niemann Pick A/B diseases: A retrospective study from India

(2016) Srilatha Kadali et al.   CLINICA CHIMICA ACTA

Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism

(2016) Sara Boenzi et al.   JOURNAL OF LIPID RESEARCH

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

Types A and B Niemann-Pick disease

(2015) Edward H. Schuchman et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants

(2015) Stefania Zampieri et al.   HUMAN MUTATION

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

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

Newborn Screening for Lysosomal Storage Diseases

(2014) M. H. Gelb et al.   CLINICAL CHEMISTRY

Value of plasma chitotriosidase to assess non-neuronopathic Gaucher disease severity and progression in the era of enzyme replacement therapy

(2014) L. van Dussen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

Liver and Skin Histopathology in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B)

(2012) Beth L. Thurberg et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

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

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

Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients

(2012) C.E.M. Hollak et al.   MOLECULAR GENETICS AND METABOLISM

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(2010) Jonathan Desnick et al.   MOLECULAR MEDICINE

Common G102S polymorphism in chitotriosidase differentially affects activity towards 4-methylumbelliferyl substrates

(2009) Anton P. Bussink et al.   FEBS Journal

Plasma chitotriosidase activity in children with lysosomal storage disorders

(2009) Jayesh J. Sheth et al.   INDIAN JOURNAL OF PEDIATRICS

Niemann-Pick disease type B with severe coronary artery disease and early recurrence after coronary artery bypass grafting

(2008) Elizabeth A. Orchard et al.   Journal of Clinical Lipidology

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

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