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Niemann-Pick Diseases

Known as: LIPIDOSIS, SPHINGOMYELIN, neimann-pick disease, sphingomyelinase deficiency 
A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be… 
National Institutes of Health

Related topics

Related topics

19 relations

Broader (2)

Enzyme DeficiencySphingolipidoses
Hereditary DiseasesIn BloodLipid Metabolism DisordersMicrobiological

Narrower (5)

NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL (disorder)Niemann-Pick Disease, Type ANiemann-Pick Disease, Type BNiemann-Pick Disease, Type C

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2008
2008
Acid sphingomyelinase deficiency protects from cisplatin-induced gastrointestinal damage
Cisplatin is one of the most effectively used chemotherapeutic agents for cancer treatment. However, in humans, important… 
Highly Cited
2007
Highly Cited
2007
Development of an assay for the intermembrane transfer of cholesterol by Niemann-Pick C2 protein
Abstract Niemann-Pick type C disease is an inherited fatal disorder characterized by the accumulation of unesterified cholesterol… 
1984
1984
A mouse model for Niemann-Pick disease: phospholipid class and fatty acid composition of various tissues.
Recently, a strain of mice bearing an autosomal recessive gene, spm, has been described. On the basis of clinical and… 
Highly Cited
1983
Highly Cited
1983
Pathways of sphingomyelin metabolism in cultured fibroblasts from normal and sphingomyelin lipidosis subjects.
1983
1983
Isocortical Pathology in Type C Niemann‐Pick Disease: A Combined Golgi‐Pigmentoarchitectonic Study
A case of Niemann-Pick disease was examined with Golgi preparations and a transparent Golgi impregnation counterstained for… 
1977
1977
Evidence against phospholipid asymmetry in intracellular membranes from liver.
We have studied the distribution of phospholipids across the membrane of microsomal vesicles and Golgi-derived secretory vesicles… 
Highly Cited
1975
Highly Cited
1975
Sphingomyelinases in Human Tissues. II. Absence of a Specific Enzyme from Liver and Brain of Niemann-Pick Disease, Type C
Extract: Sphingomyelinase was obtained in excellent yield from liver and brain by homogenization with 0.05 M citrate-phosphate… 
Highly Cited
1969
Highly Cited
1969
Infantile Niemann-Pick disease. A chemical study with isolation and characterization of membranous cytoplasmic bodies and myelin.
NIEMANN-Pick disease is an inborn error of lipid metabolism characterized by abnormal accumulation of sphingomyelin in various… 
Highly Cited
1968
Highly Cited
1968
The influence of surface charge density of phosphatides on the binding of some cations.
Highly Cited
1965
Highly Cited
1965
Individual molecular species of different phospholipid classes. Part II. A method of analysis
New analytical possibilities arise when glycerosphophatides are converted into diglyceride acetates or analogous compounds: In… 
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