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Niemannā€“Pick disease
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Niemann-Pick disease, type C1
Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein
Niemannā€“Pick disease type C
Medical condition
Subject of 5
Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3Ī²,5Ī±,6Ī²-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations
scientific article published on 11 January 2016
Linkage of Niemann-Pick Disease Type D to the Same Region of Human Chromosome 18 as Niemann-Pick Disease Type C
scientific article published on July 1, 1997
A defect in cholesterol esterification in Niemann-Pick disease (type C) patients
scientific article published on December 1985
Neurofibrillary tangles in Niemann-Pick disease type C
scientific article published on 01 February 1995
Acid sphingomyelinase deficient mice: a model of types A and B Niemannā€“Pick disease
scientific article published on July 1, 1995
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Wikipedia

Niemannā€“Pick disease (NP), also known as acid sphingomyelinase deficiency, is a group of rare genetic diseases of varying severity. These are inherited metabolic disorders in which sphingomyelin accumulates in lysosomes in cells of many organs. NP types A, A/B, and B are caused by mutations in the SMPD1 gene, which causes a deficiency of an acid...

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class of disease
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Disease
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Pick's disease
References
Wikidata