Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.
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Amino acid management in cancerHyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case reportNeurocognitive outcomes in long-term survivors of childhood acute lymphoblastic leukemia treated on contemporary treatment protocols: A systematic reviewDefinition of transcriptome-based indices for quantitative characterization of chemically disturbed stem cell development: introduction of the STOP-Toxukn and STOP-Toxukk tests.Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay.Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism.Plasma 24-metabolite Panel Predicts Preclinical Transition to Clinical Stages of Alzheimer's DiseaseA Robust Single Primate Neuroepithelial Cell Clonal Expansion System for Neural Tube Development and Disease Studies.Dietary essentiality of "nutritionally non-essential amino acids" for animals and humans.The impact of glutamine supplementation on the symptoms of ataxia-telangiectasia: a preclinical assessment.Rational confederation of genes and diseases: NGS interpretation via GeneCards, MalaCards and VarElect.The Putative Role of Environmental Mercury in the Pathogenesis and Pathophysiology of Autism Spectrum Disorders and Subtypes.Amino acid synthesis deficiencies.ATF3 negatively regulates cellular antiviral signaling and autophagy in the absence of type I interferons.Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype.Clinical application of whole-exome sequencing across clinical indications.Insight into the metabolic mechanism of Diterpene Ginkgolides on antidepressant effects for attenuating behavioural deficits compared with venlafaxine.Asparagine Synthetase deficiency-report of a novel mutation and review of literature.Characterization of SPATA5-related encephalopathy in early childhood.Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency.Asparagine synthetase: Function, structure, and role in disease.Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency.Changes in the amino acid profiles and free radical scavenging activities of Tenebrio molitor larvae following enzymatic hydrolysis.
P2860
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P2860
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.
description
2013 nî lūn-bûn
@nan
2013 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年学术文章
@wuu
2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
name
Deficiency of asparagine synth ...... essive form of encephalopathy.
@ast
Deficiency of asparagine synth ...... essive form of encephalopathy.
@en
type
label
Deficiency of asparagine synth ...... essive form of encephalopathy.
@ast
Deficiency of asparagine synth ...... essive form of encephalopathy.
@en
prefLabel
Deficiency of asparagine synth ...... essive form of encephalopathy.
@ast
Deficiency of asparagine synth ...... essive form of encephalopathy.
@en
P2093
P2860
P50
P1433
P1476
Deficiency of asparagine synth ...... essive form of encephalopathy.
@en
P2093
Abul Hasnat
Andrea L Pappas
Brenda Banwell
Bruria Ben-Zeev
Danit Oz-Levi
David B Goldstein
David Chitayat
Debra L Silver
Dipendra K Aryal
P2860
P304
P356
10.1016/J.NEURON.2013.08.013
P407
P50
P577
2013-10-01T00:00:00Z