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dimethylglycine and Niemann-Pick Disease, Type C

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

dimethylglycine: metabolic product of calcium pangamate; mutagen when mixed with nitrite; RN given refers to parent cpd
N,N-dimethylglycine : An N-methylglycine that is glycine carrying two N-methyl substituents.

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's1 (100.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Jiang, X1
Sidhu, R1
Porter, FD1
Yanjanin, NM1
Speak, AO1
te Vruchte, DT1
Platt, FM1
Fujiwara, H1
Scherrer, DE1
Zhang, J1
Dietzen, DJ1
Schaffer, JE1
Ory, DS1

Other Studies

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

ArticleYear
A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma.
    Journal of lipid research, 2011, Volume: 52, Issue:7

    Topics: Adolescent; Adult; Calibration; Case-Control Studies; Child; Child, Preschool; Cholestanols; Chromat

2011