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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Main Authors: | , , , , , |
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Format: | Article |
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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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