Succinic semialdehyde dehydrogenase deficiency: review of the clinical phenotype and metabolic/genomic approach to diagnosis

Overview of attention for article published in Frontiers in Genetics, June 2024

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RT @sarah_elsea: Metabolomic and genomic findings in SSADH deficiency - highlighting the importance of functional testing to guide variant…

RT @sarah_elsea: Metabolomic and genomic findings in SSADH deficiency - highlighting the importance of functional testing to guide variant…

RT @sarah_elsea: Metabolomic and genomic findings in SSADH deficiency - highlighting the importance of functional testing to guide variant…

Metabolomic and genomic findings in SSADH deficiency - highlighting the importance of functional testing to guide variant interpretation for inborn errors of metabolism. @bcmgenetics @BCM_HGSC @AwarenessSsadh https://t.co/s4S4i0LgNP

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