Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency

The incidence of succinic semialdehyde dehydrogenase (SSADH) deficiency, an autosomal recessive inherited disorder of GABA degradation, is unknown. Upon a recent diagnosis of a new family of affected fraternal twins from the Punjabi ethnic group of India, case ascertainment from the literature and o...

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Détails bibliographiques
Publié dans:JIMD Rep
Auteurs principaux: Attri, Savita Verma, Singhi, Pratibha, Wiwattanadittakul, Natrujee, Goswami, Jyotindra N., Sankhyan, Naveen, Salomons, Gajja S., Roullett, Jean-Baptiste, Hodgeman, Ryan, Parviz, Mahsa, Gibson, K. Michael, Pearl, Phillip L.
Format: Artigo
Langue:Inglês
Publié: Springer Berlin Heidelberg 2016
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5509553/
https://ncbi.nlm.nih.gov/pubmed/27815844
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_14
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