Gamma-aminobutyric acid-transaminase deficiency: a newly recognized inborn error of neurotransmitter metabolism.
about
Focal neurometabolic alterations in mice deficient for succinate semialdehyde dehydrogenaseThe pediatric neurotransmitter disordersDisorders of GABA metabolism: SSADH and GABA-transaminase deficienciesThe International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disordersPhenotype of GABA-transaminase deficiency.Clinical review of genetic epileptic encephalopathiesPhenotyping GABA transaminase deficiency: a case description and literature review.A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.Value of lumbar puncture in the diagnosis of genetic metabolic encephalopathies.4-aminobutyrate aminotransferase (ABAT): genetic and pharmacological evidence for an involvement in gastro esophageal reflux disease.Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.Independent Effects of γ-Aminobutyric Acid Transaminase (GABAT) on Metabolic and Sleep Homeostasis.Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiencyPersonalized medicine approach confirms a milder case of ABAT deficiency.Inborn errors of metabolism causing epilepsy.Biochemical and computational approaches to improve the clinical treatment of dopa decarboxylase-related diseases: an overviewThe GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism.Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability.Carnosine and anserine homeostasis in skeletal muscle and heart is controlled by β-alanine transamination.Complex Phenotype of a Boy With De Novo 16p13.3-13.2 Interstitial Deletion.
P2860
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P2860
Gamma-aminobutyric acid-transaminase deficiency: a newly recognized inborn error of neurotransmitter metabolism.
description
1984 nî lūn-bûn
@nan
1984 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1984 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1984年の論文
@ja
1984年論文
@yue
1984年論文
@zh-hant
1984年論文
@zh-hk
1984年論文
@zh-mo
1984年論文
@zh-tw
1984年论文
@wuu
name
Gamma-aminobutyric acid-transa ...... f neurotransmitter metabolism.
@ast
Gamma-aminobutyric acid-transa ...... f neurotransmitter metabolism.
@en
Gamma-aminobutyric acid-transa ...... f neurotransmitter metabolism.
@nl
type
label
Gamma-aminobutyric acid-transa ...... f neurotransmitter metabolism.
@ast
Gamma-aminobutyric acid-transa ...... f neurotransmitter metabolism.
@en
Gamma-aminobutyric acid-transa ...... f neurotransmitter metabolism.
@nl
prefLabel
Gamma-aminobutyric acid-transa ...... f neurotransmitter metabolism.
@ast
Gamma-aminobutyric acid-transa ...... f neurotransmitter metabolism.
@en
Gamma-aminobutyric acid-transa ...... f neurotransmitter metabolism.
@nl
P2093
P356
P1433
P1476
Gamma-aminobutyric acid-transa ...... f neurotransmitter metabolism.
@en
P2093
Brucher JM
Eggermont E
Schechter PJ
P304
P356
10.1055/S-2008-1052362
P577
1984-08-01T00:00:00Z