Associated Papers
Clinical features and ALDH5A1 gene findings in 13 Chinese cases with succinic semialdehyde dehydrogenase deficiency.
Dong H et al.
Bmc Medical Genomics, 2024
Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis.
Glinton KE et al.
Frontiers in Genetics, 2024
39011401 (PubMed )
Supplement: Table1.xlsx › Table_S1
Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1.
Brennenstuhl H et al.
International Journal of Molecular Sciences, 2020
Succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses.
Li X et al.
Gene, 2015
[Seven patients of argininemia with spastic tetraplegia as the first and major symptom and prenatal diagnosis of two fetuses with high risk].
Wu T et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
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