about
Carnitine supplementation for inborn errors of metabolismCarnitine supplementation for inborn errors of metabolismMegalencephalic leukoencephalopathy with subcortical cysts.Cyclic vomiting syndrome masking a fatal metabolic disease.Role of carnitine in diseaseIntracranial hemorrhage and rebleeding in suspected victims of abusive head trauma: addressing the forensic controversies.Prevention of cerebral palsy in glutaric aciduria type 1 by dietary managementMutation analysis in glutaric aciduria type I.Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type IMetabolic products in urine of preterm infants characterized via gas chromatography-mass spectrometry.The potential of stem cell therapies for neurological diseases.A treatable neurometabolic disorder: glutaric aciduria type 1.Excessive homozygosity identified by chromosomal microarray at a known GCDH mutation locus correlates with brain MRI abnormalities in an infant with glutaric aciduria.Glutaric aciduria and suspected child abuse.Mechanism of metabolic stroke and spontaneous cerebral hemorrhage in glutaric aciduria type I.Ca(2+) and Na(+) dependence of 3-hydroxyglutarate-induced excitotoxicity in primary neuronal cultures from chick embryo telencephalons.Novel mutation and prenatal sonographic findings of glutaric aciduria (type I) in two Taiwanese families.Genetic Screening of Selected Disease-Causing Mutations in Glutaryl-CoA Dehydrogenase Gene among Indian Patients with Glutaric Aciduria Type I.Heparan sulfate mediates neuroprotection from degeneration in experimental glutaric aciduria.Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene.Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia.
P2860
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P2860
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年学术文章
@wuu
1998年学术文章
@zh
1998年学术文章
@zh-cn
1998年学术文章
@zh-hans
1998年学术文章
@zh-my
1998年学术文章
@zh-sg
1998年學術文章
@yue
1998年學術文章
@zh-hant
name
Diagnosis and management of glutaric aciduria type I.
@en
Diagnosis and management of glutaric aciduria type I.
@nl
type
label
Diagnosis and management of glutaric aciduria type I.
@en
Diagnosis and management of glutaric aciduria type I.
@nl
prefLabel
Diagnosis and management of glutaric aciduria type I.
@en
Diagnosis and management of glutaric aciduria type I.
@nl
P2093
P356
P1476
Diagnosis and management of glutaric aciduria type I.
@en
P2093
A Superti-Furga
D H Morton
E Christensen
G F Hoffmann
J V Leonard
J Zschocke
S I Goodman
P2888
P304
P356
10.1023/A:1005390105171
P577
1998-06-01T00:00:00Z
P6179
1031066152