Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency.

Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency.

Item
http://www.wikidata.org/entity/Q41926212
Mutations responsible for 3-phosphoserine phosphatase deficiencyMolecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.A novel balanced chromosomal translocation found in subjects with schizophrenia and schizotypal personality disorder: altered l-serine level associated with disruption of PSAT1 gene expressionPhosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathwayGlycine receptors support excitatory neurotransmitter release in developing mouse visual cortexV490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme.Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiencyL-serine in disease and developmentL-Serine Deficiency Elicits Intracellular Accumulation of Cytotoxic Deoxysphingolipids and Lipid Body Formation.On the phenotypic spectrum of serine biosynthesis defects.Amino acid synthesis deficiencies.Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges.An update on serine deficiency disorders.L-Serine regulates the activities of microglial cells that express very low level of 3-phosphoglycerate dehydrogenase, an enzyme for L-Serine biosynthesis.Study of Glycine and Folic Acid Supplementation to Ameliorate Transfusion Dependence in Congenital SLC25A38 Mutated Sideroblastic Anemia.
P2860

Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency.

Item
http://www.wikidata.org/entity/Q41926212
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
1998年论文
@zh
1998年论文
@zh-cn
name
Beneficial effects of L-serine ...... rate dehydrogenase deficiency.
@en
type
label
Beneficial effects of L-serine ...... rate dehydrogenase deficiency.
@en
prefLabel
Beneficial effects of L-serine ...... rate dehydrogenase deficiency.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
Beneficial effects of L-serine ...... rate dehydrogenase deficiency.
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698