3‐Methylglutaconyl‐CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis

Autor:	Ashley Hertzog, Arthavan Selvanathan, Dinusha Pandithan, Won‐Tae Kim, Maina P. Kava, Avihu Boneh, David Coman, Adviye Ayper Tolun, Kaustuv Bhattacharya
Rok vydání:	2022
Předmět:	Endocrinology Diabetes and Metabolism Internal Medicine Biochemistry Genetics and Molecular Biology (miscellaneous)
Zdroj:	JIMD Reports. 63:568-574
ISSN:	2192-8312
DOI:	10.1002/jmd2.12332
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::a4c6338bd37ee8573f2ed76b6b3077bb https://doi.org/10.1002/jmd2.12332 Zobrazit plný text záznamu Plný text