Succinic Semialdehyde Dehydrogenase Deficiency in a Chinese Boy

Succinic semialdehyde dehydrogenase deficiency is a rare autosomal recessive disorder affecting catabolism of the neurotransmitter gamma-aminobutyric acid (GABA), with a wide range of clinical phenotype. We report a Malaysian Chinese boy with a severe early onset phenotype due to a previously unrepo...

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Bibliographic Details
Main Authors: Tay, C.G., Ariffin, H., Yap, S., Rahmat, K., Sthaneshwar, P., Ong, L.C.
Format: Article
Published: SAGE Publications (UK and US) 2015
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Online Access:http://eprints.um.edu.my/19585/
http://dx.doi.org/10.1177/0883073814540523
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