Niemann–Pick disease · Medical condition · YYNN

Niemann–Pick disease

? TBD

Medical condition

Ratings
0

Nobody has rated this yet. Be the first!

Subclasses
2

Influences rating

Niemann-Pick disease, type C1

Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein

Niemann–Pick disease type C

Medical condition

Subject of
5

Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-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 Niemann–Pick disease

scientific article published on July 1, 1995

Lists
0

Niemann–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...

Instance of

class of disease

Subclass of

Different from

Wikidata