Succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
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1. Clinical features and ALDH5A1 gene findings in 13 Chinese cases with succinic semialdehyde dehydrogenase deficiency;BMC Medical Genomics;2024-06-11
2. Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency;Molecular Genetics and Metabolism;2024-05
3. Clinical features and ALDH5A1 gene findings in 13 Chinese cases with succinic semialdehyde dehydrogenase deficiency;2023-11-08
4. Urine Organic Acids as Metabolic Indicators for Global Developmental Delay/Intellectual Disability in Chinese Children;Frontiers in Molecular Biosciences;2021-12-22
5. Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1;International Journal of Molecular Sciences;2020-11-13
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