Quantitation of Gamma-Hydroxybutyric Acid in Dried Blood Spots: Feasibility Assessment for Newborn Screening of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency

OBJECTIVE: SSADH deficiency, the most prevalent autosomal recessive disorder of GABA degradation, is characterized by elevated gamma-hydroxybutyric acid (GHB). Neurological outcomes may be improved with early intervention and anticipatory guidance. Morbidity has been compounded by complications, e.g...

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Xehetasun bibliografikoak
Egile Nagusiak: Forni, Sabrina, Pearl, Phillip L., Gibson, K. Michael, Yu, Yuezhou, Sweetman, Lawrence
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2013
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3881544/
https://ncbi.nlm.nih.gov/pubmed/23742746
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2013.05.002
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