Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance.
about
Protein Kinase C Phosphorylates the System N Glutamine Transporter SN1 (Slc38a3) and Regulates Its Membrane Trafficking and DegradationMinireview on Glutamine Synthetase Deficiency, an Ultra-Rare Inborn Error of Amino Acid BiosynthesisAsparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay.Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.Glutamate as a neurotransmitter in the healthy brainMolecular Mechanisms of Glutamine Synthetase Mutations that Lead to Clinically Relevant Pathologies.The Amino Acid Transporters of the Glutamate/GABA-Glutamine Cycle and Their Impact on Insulin and Glucagon Secretion.Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.Amino acid synthesis deficiencies.Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype.Secondary NAD+ deficiency in the inherited defect of glutamine synthetase.Glutamine synthetase mutations that cause glutamine deficiency: mechanistic insights from molecular dynamics simulations.
P2860
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P2860
Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh
2012年學術文章
@zh-hant
name
Glutamine supplementation in a ...... central amino acid imbalance.
@ast
Glutamine supplementation in a ...... central amino acid imbalance.
@en
type
label
Glutamine supplementation in a ...... central amino acid imbalance.
@ast
Glutamine supplementation in a ...... central amino acid imbalance.
@en
prefLabel
Glutamine supplementation in a ...... central amino acid imbalance.
@ast
Glutamine supplementation in a ...... central amino acid imbalance.
@en
P2093
P2860
P356
P1476
Glutamine supplementation in a ...... central amino acid imbalance.
@en
P2093
Bernhard Schmitt
Farrukh A Chaudhry
Ianina Scheer
Johannes Häberle
Khalid Ibrahim
Noora Shahbeck
Tawfeg Ben-Omran
P2860
P2888
P356
10.1186/1750-1172-7-48
P577
2012-07-25T00:00:00Z
P5875
P6179
1002439364