A case report of classic galactosemia with a GALT gene variant and a literature review

Abstract Background Galactosemia is an autosomal recessive disorder resulting from an enzyme defect in the galactose metabolic pathway. The most severe manifestation of classic galactosemia is caused by galactose-1-phosphate uridylyltransferase (GALT) deficiency, and this condition can be fatal duri...

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出版年:	BMC Pediatrics
主要な著者:	Yong-cai Wang, Lian-cheng Lan, Xia Yang, Juan Xiao, Hai-xin Liu, Qing-wen Shan
フォーマット:	論文
言語:	英語
出版事項:	BMC 2024-05-01
主題:	Galactosemia GALT gene Exome sequencing Liver failure Literature review
オンライン･アクセス:	https://doi.org/10.1186/s12887-024-04769-0