Zobrazeno 1 - 3
of 3
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
Autor:
García‐Cruz, Edgar1, Manzur‐Sandoval, Daniel2 drdanielmanzur@gmail.com, Toledo‐Alemán, Enma Leticia3, Angulo‐Cruzado, Stephanie Teresa1, Sánchez‐López, Sheila Vania1, Benita‐Bordes, Antonio4, Calderón‐Colmenero, Juan1, Díaz‐Gallardo, Linda Guieniza1, Aranda‐Fraustro, Alberto5, Mata‐Salgado, Gabriela Denisse1, Baranda‐Tovar, Francisco Martín6
Publikováno v:
Echocardiography. Sep2023, Vol. 40 Issue 9, p1016-1020. 5p.
Publikováno v:
Pediatrics Week; 6/7/2024, p525-525, 1p