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-Reference-Cited by-同舟云学术

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

Published:2016-07 Issue:3 Volume:118 Page:206-213
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Cassiman David,Packman Seymour,Bembi Bruno,Turkia Hadhami Ben,Al-Sayed Moeenaldeen,Schiff Manuel,Imrie Jackie,Mabe Paulina,Takahashi Tsutomu,Mengel Karl Eugen,Giugliani Roberto,Cox Gerald F.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference42 articles.

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3. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann–Pick disease;Schuchman;J. Inherit. Metab. Dis.,2007

4. Natural history of type A Niemann–Pick disease: possible endpoints for therapeutic trials;McGovern;Neurology,2006

5. Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study;Pavlu-Pereira;J. Inherit. Metab. Dis.,2005

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