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Clinical features and ALDH5A1 gene findings in 13 Chinese cases with succinic semialdehyde dehydrogenase deficiency.

BMC medical genomics - 11 Jun 2024

Dong Hui, Ma Xue, Chen Zhehui, Zhang Huiting, Song Jinqing, Jin Ying, Li Mengqiu, Lu Mei, He Ruxuan, Zhang Yao, Yang Yanling

Abstract excerpt

BACKGROUND AND AIMS: To investigate the clinical features, ALDH5A1 gene variations, treatment, and prognosis of patients with succinic semialdehyde dehydrogenase (SSADH) deficiency. MATERIALS AND METHODS: This retrospective study evaluated the findings in 13 Chinese patients with SSADH deficiency admitted to the Pediatric Department of Peking University First Hospital from September 2013 to September 2023....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38862963
DOI: 10.1186/s12920-024-01925-4
PMCID: PMC11165735

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