A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.

A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.

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http://www.wikidata.org/entity/Q33688151
Disorders 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 neuron-glia interaction involving GABA transaminase contributes to sleep loss in sleepless mutantsNeonatal brain metabolite concentrations: an in vivo magnetic resonance spectroscopy study with a clinical MR system at 3 Tesla.Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification.Personalized medicine approach confirms a milder case of ABAT deficiency.Inborn errors of metabolism causing epilepsy.The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism.Defects in GABA metabolism affect selective autophagy pathways and are alleviated by mTOR inhibition.Therapeutic relevance of mTOR inhibition in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability.
P2860

A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.

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http://www.wikidata.org/entity/Q33688151
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2010 nî lūn-bûn
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2010 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.
@ast
A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.
@en
type
label
A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.
@ast
A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.
@en
prefLabel
A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.
@ast
A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.
@en
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P6179
P698
P932
P356
P1433
P1476
A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P6179
P698
P932