serine has been researched along with Niemann-Pick Disease, Type C in 1 studies
Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
serine : An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group.
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 | 1 (100.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Maekawa, M | 1 |
Jinnoh, I | 1 |
Matsumoto, Y | 1 |
Narita, A | 1 |
Mashima, R | 1 |
Takahashi, H | 1 |
Iwahori, A | 1 |
Saigusa, D | 1 |
Fujii, K | 1 |
Abe, A | 1 |
Higaki, K | 1 |
Yamauchi, S | 1 |
Ozeki, Y | 1 |
Shimoda, K | 1 |
Tomioka, Y | 1 |
Okuyama, T | 1 |
Eto, Y | 1 |
Ohno, K | 1 |
T Clayton, P | 1 |
Yamaguchi, H | 1 |
Mano, N | 1 |
1 other study available for serine and Niemann-Pick Disease, Type C
Article | Year |
---|---|
Structural Determination of Lysosphingomyelin-509 and Discovery of Novel Class Lipids from Patients with Niemann-Pick Disease Type C.
Topics: Biomarkers; Female; Humans; Lipids; Male; Niemann-Pick Disease, Type C; Phosphorylcholine; Serine; T | 2019 |