Identification of Additional Cases of Severe Neonatal GABA‐Transaminase Deficiency
ABSTRACT GABA‐transaminase (GABA‐T) deficiency is a rare disorder of GABA metabolism characterized by neonatal encephalopathy, epilepsy, hypotonia and intellectual disability. It is caused by biallelic pathogenic variants in the ABAT gene. We report a case of a newborn female born to a G10P5 mother,...
Sábháilte in:
| Príomhchruthaitheoirí: | , , , , , , , , |
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| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe / Cruthaithe: |
Wiley
2026-01-01
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| Sraith: | JIMD Reports |
| Ábhair: | |
| Rochtain ar líne: | https://doi.org/10.1002/jmd2.70069 |
| Clibeanna: |
Níl clibeanna ann, Bí ar an gcéad duine le clib a chur leis an taifead seo!
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