Page last updated: 2024-10-16

choline and Niemann-Pick Disease, Type A

choline has been researched along with Niemann-Pick Disease, Type A in 1 studies

Niemann-Pick Disease, Type A: The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage.

Research Excerpts

ExcerptRelevanceReference
"Choline is an essential nutrient that must be obtained from the diet and its deficiency promotes fatty liver disease in a process dependent on ASM activity."1.91Modulation of Dietary Choline Uptake in a Mouse Model of Acid Sphingomyelinase Deficiency. ( Casas, J; Gaudioso, Á; Ledesma, MD; Moreno-Huguet, P; Schuchman, EH, 2023)

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's1 (100.00)2.80

Authors

AuthorsStudies
Gaudioso, Á1
Moreno-Huguet, P1
Casas, J1
Schuchman, EH1
Ledesma, MD1

Other Studies

1 other study available for choline and Niemann-Pick Disease, Type A

ArticleYear
Modulation of Dietary Choline Uptake in a Mouse Model of Acid Sphingomyelinase Deficiency.
    International journal of molecular sciences, 2023, Jun-05, Volume: 24, Issue:11

    Topics: Animals; Choline; Diet; Disease Models, Animal; Mice; Mice, Knockout; Niemann-Pick Disease, Type A;

2023