Page last updated: 2024-10-18

glycine and Niemann-Pick Disease, Type C

glycine has been researched along with Niemann-Pick Disease, Type C in 1 studies

Niemann-Pick Disease, Type C: An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of the NPC1 gene, which encodes a protein that mediates intracellular cholesterol transport from LYSOSOMES. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry.

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
Sidhu, R1
Kell, P1
Dietzen, DJ1
Farhat, NY1
Do, AND1
Porter, FD1
Berry-Kravis, E1
Reunert, J1
Marquardt, T1
Giugliani, R1
Lourenço, CM1
Wang, RY1
Movsesyan, N1
Plummer, E1
Schaffer, JE1
Ory, DS1
Jiang, X1

Other Studies

1 other study available for glycine and Niemann-Pick Disease, Type C

ArticleYear
Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1.
    Molecular genetics and metabolism, 2020, Volume: 131, Issue:4

    Topics: 2-Hydroxypropyl-beta-cyclodextrin; Bile Acids and Salts; Biomarkers; Female; Glycine; Humans; Intrac

2020