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1.
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
Hum Mol Genet
; 32(6): 917-933, 2023 03 06.
Article
in English
| MEDLINE | ID: mdl-36190515
2.
Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation.
JCI Insight
; 9(4)2024 Feb 22.
Article
in English
| MEDLINE | ID: mdl-38271099
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