Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Denisse Mata-Salgado"'
Autor:
Ivan Martínez Duncker, Denisse Mata-Salgado, Ibrahim Shammas, Wasantha Ranatunga, Earnest James Paul Daniel, Mario E. Cruz Muñoz, Melania Abreu, Héctor Mora-Montes, Miao He, Eva Morava, Gildardo Zafra de la Rosa
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
This report outlines the case of a child affected by a type of congenital disorder of glycosylation (CDG) known as ALG2-CDG (OMIM 607906), presenting as a congenital myasthenic syndrome (CMS) caused by variants identified in ALG2, which encodes an α
Externí odkaz:
https://doaj.org/article/79c48e7605864d46adf586bb565c6aa1