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

2023-11-08

Abstract excerpt

<title>Abstract</title> <p><bold>Background and aims:</bold> To investigate the clinical features, <italic>ALDH5A1</italic>gene variations, treatment, and prognosis of patients with succinic semialdehyde dehydrogenase (SSADH) deficiency. <bold>Materials and</bold> <bold>methods:</bold> This retrospective study evaluated the findings in 13 Chinese patients with SSADH deficiency admitted to the Pediatric Department...

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Literature Corpus work: b021e4f6-2773-5eb6-af9f-3bcbde232399
DOI: 10.21203/rs.3.rs-3558273/v1

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