Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis

Genomic sequencing offers an untargeted, data-driven approach to genetic diagnosis; however, variants of uncertain significance often hinder the diagnostic process. The discovery of rare genomic variants without previously known functional evidence of pathogenicity often results in variants being ov...

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מידע ביבליוגרפי

Principais autores:	Kevin E. Glinton, Charul Gijavanekar, Abbhirami Rajagopal, Laura P. Mackay, Kirt A. Martin, Phillip L. Pearl, K. Michael Gibson, Theresa A. Wilson, V. Reid Sutton, Sarah H. Elsea
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	Frontiers Media S.A. 2024-06-01
סדרה:	Frontiers in Genetics
נושאים:	SSADHD (succinic semialdehyde dehydrogenase deficiency) succinic semialdehyde dehydrogenase GABA catabolism ALDH5A1 GHB (4-hydroxybutyric acid) 2-pyrrolidinone
גישה מקוונת:	https://www.frontiersin.org/articles/10.3389/fgene.2024.1405468/full
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