Determination of 7-ketocholesterol in plasma by LC-MS for rapid diagnosis of acid SMase-deficient Niemann-Pick disease

Morbidity and mortality in type B Niemann–Pick disease

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

Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease

(2013) Huiwen Zhang et al.   Orphanet Journal of Rare Diseases

Enzyme Replacement Therapy for Lysosomal Diseases: Lessons from 20 Years of Experience and Remaining Challenges

(2012) R.J. Desnick et al.   Annual Review of Genomics and Human Genetics

A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma

(2011) Xuntian Jiang et al.   JOURNAL OF LIPID RESEARCH

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(2010) Jonathan Desnick et al.   MOLECULAR MEDICINE

Cholesterol Oxidation Products Are Sensitive and Specific Blood-Based Biomarkers for Niemann-Pick C1 Disease

(2010) F. D. Porter et al.   Science Translational Medicine

Analysis of anabolic steroids in human hair using LC–MS/MS

(2010) Nawed Deshmukh et al.   STEROIDS

Identification and characterization ofSMPD1mutations causing Niemann-Pick types A and B in Spanish patients

(2009) Laura Rodríguez-Pascau et al.   HUMAN MUTATION

Pulmonary delivery of recombinant acid sphingomyelinase improves clearance of lysosomal sphingomyelin from the lungs of a murine model of Niemann–Pick disease

(2009) Robin J. Ziegler et al.   MOLECULAR GENETICS AND METABOLISM

Highly sensitive quantification of key regulatory oxysterols in biological samples by LC-ESI-MS/MS

(2008) Akira Honda et al.   JOURNAL OF LIPID RESEARCH

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

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