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...
Egile Nagusiak: | , , , , , |
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Formatua: | Artikulua |
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SAGE Publications (UK and US)
2015
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Gaiak: |