Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrate-Reference-Cited by-同舟云学术

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Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrate

Published:2015-06 Issue: Volume:3 Page:55-57
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Chuang Wei-Lien,Pacheco Joshua,Cooper Samantha,Kingsbury Jonathan S.,Hinds John,Wolf Pavlina,Oliva Petra,Keutzer Joan,Cox Gerald F.,Zhang Kate

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference12 articles.

1. Natural history of type a Niemann–Pick disease — possible endpoints for therapeutic trials;McGovern;Neurology,2006

2. Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann–Pick disease;Simonaro;Am. J. Hum. Genet.,2006

3. Synthesis of 2-N-(hexadecanoyl)-amino-4-nitrophenyl phosphorylcholine-hydroxide, a chromogenic substrate for assaying sphingomyelinase activity;Gal;Chem. Phys. Lipids,1976

4. Niemann–Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292K;Harzer;Neuropediatrics,2003

5. A new fluorimetric enzyme assay for the diagnosis of Niemann–Pick A/B, with specificity of natural sphingomyelinase substrate;van Diggelen;J. Inherit. Metab. Dis.,2005

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Acid sphingomyelinase deficiency: The clinical spectrum of 2 patients who carry the Q294K mutation and diagnostic challenges;Molecular Genetics and Metabolism Reports;2022-09

2. Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders;Journal of Inherited Metabolic Disease;2018-03-19

3. Study the therapeutic mechanism of Amomum compactum in gentamicin-induced acute kidney injury rat based on a back propagation neural network algorithm;Journal of Chromatography B;2017-01

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