Diagnosis of niemann-pick disease using a simple and sensitive fluorimetric assay of sphingomyelinase activity
Author:
Publisher
Elsevier BV
Subject
Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine
Reference19 articles.
1. Sphingomyelinase in normal human spleens and in spleens from subjects with Niemann-Pick disease
2. The Metabolic Basis of Inherited Disease;Fredrickson,1972
3. Sphingomyelinases in Human Tissues. II. Absence of a Specific Enzyme from Liver and Brain of Niemann-Pick Disease, Type C
4. A Practical Chromogenic Procedure for the Detection of Homozygotes and Heterozygous Carriers of Niemann-Pick Disease
Cited by 24 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. Sphingomyelinase in cultured skin fibroblasts from normal and Niemann-Pick type C patients;Clinical Genetics;2008-04-23
2. Hepatic storage of bis(monoacylglycerol) phosphate without concomitant storage of sphingomyelin in a 72-year-old patient with a partial deficiency of sphingomyelinase;Clinical Genetics;2008-04-23
3. Dot immunodetection for sphingomyelinase with monoclonal antibody;Biochemical Medicine and Metabolic Biology;1987-02
4. [61] Enzymatic diagnosis of sphingolipidoses;Methods in Enzymology;1987
5. Biochemical and ultrastructural studies on an Epstein-Barr virus-transformed lymphoid cell line from a Niemann-Pick disease type C patient;Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism;1986-07
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