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.
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 0 (0.00) | 29.6817 |
2010's | 0 (0.00) | 24.3611 |
2020's | 1 (100.00) | 2.80 |
Authors | Studies |
---|---|
Sidhu, R | 1 |
Kell, P | 1 |
Dietzen, DJ | 1 |
Farhat, NY | 1 |
Do, AND | 1 |
Porter, FD | 1 |
Berry-Kravis, E | 1 |
Reunert, J | 1 |
Marquardt, T | 1 |
Giugliani, R | 1 |
Lourenço, CM | 1 |
Wang, RY | 1 |
Movsesyan, N | 1 |
Plummer, E | 1 |
Schaffer, JE | 1 |
Ory, DS | 1 |
Jiang, X | 1 |
1 other study available for glycine and Niemann-Pick Disease, Type C
Article | Year |
---|---|
Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1.
Topics: 2-Hydroxypropyl-beta-cyclodextrin; Bile Acids and Salts; Biomarkers; Female; Glycine; Humans; Intrac | 2020 |