about
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathwayAsparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay.A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut (0) methylmalonic acidemiaThe neural stem cell fate determinant TRIM32 regulates complex behavioral traits.High phosphoserine in sepsis: panel of clinical and plasma amino acid correlations.Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism.Genetic forms of epilepsies and other paroxysmal disordersThe importance of serine metabolism in cancerExome Sequencing and the Management of Neurometabolic Disorders.An overview of inborn errors of complex lipid biosynthesis and remodelling.Clinical, etiological and therapeutic aspects of cerebral folate deficiency.Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.On the phenotypic spectrum of serine biosynthesis defects.Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches.Adaptive response to l-serine deficiency is mediated by p38 MAPK activation via 1-deoxysphinganine in normal fibroblasts.Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype.Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges.Serine alleviates oxidative stress via supporting glutathione synthesis and methionine cycle in mice.L-Serine: a Naturally-Occurring Amino Acid with Therapeutic Potential.Vitamin B6 is essential for serine de novo biosynthesis.Prenatal genetic diagnosis of Neu-Laxova syndrome.Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability.Actual Insights into Treatable Inborn Errors of Metabolism Causing Epilepsy.
P2860
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P2860
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
An update on serine deficiency disorders.
@en
type
label
An update on serine deficiency disorders.
@en
prefLabel
An update on serine deficiency disorders.
@en
P2093
P2860
P1476
An update on serine deficiency disorders.
@en
P2093
E H Brilstra
E Rubio-Gozalbo
L Van Maldergem
N M Verhoeven-Duif
S N van der Crabben
T J de Koning
P2860
P2888
P304
P356
10.1007/S10545-013-9592-4
P577
2013-03-06T00:00:00Z
P6179
1019321662