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 |
| Argitaratua: |
SAGE Publications (UK and US)
2015
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| Gaiak: |