article_metadata: Lulu Li Li Ma Min Sun Jiancheng Jiao Yudong Zhang Yue Tang Nan Yang Yuanyuan Kong
article_metadata: 10.3389/fped.2020.00443
article_metadata: Front Pediatr
article_metadata: 2020 Aug 5;8:443.
article_metadata: chinese patient gatl autosomal recessive (ar) classical galactosemia (cg) gene mutation hepatomegaly high-throughput sequencing mutation spectrum
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/32903656/
article_metadata: Case Reports
article_metadata: PMC7438714
article_metadata: 32903656
article_metadata: High-Throughput Sequencing Reveals the Loss-of-Function Mutations in GALT Cause Recessive Classical Galactosemia
article_metadata: 2020