Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Esther Moreno Medinilla"'
Publikováno v:
Anales de Pediatría, Vol 89, Iss 1, Pp 66-67 (2018)
Externí odkaz:
https://doaj.org/article/e2dc42ba1baa426abd3bd9542608ecb3
Publikováno v:
Anales de pediatria. 89(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::115240e4923930606aa14c69e26dd8df
https://pubmed.ncbi.nlm.nih.gov/29571647
https://pubmed.ncbi.nlm.nih.gov/29571647
Autor:
Esther, Moreno-Medinilla, Raquel, Berzosa-López, M Dolores, Mora-Ramírez, Javier, Blasco-Alonso, Jacinto, Martínez-Antón
Publikováno v:
Revista de neurologia. 59(11)
Pompe disease/glycogen storage disease type II is a congenital metabolic disorder. It is an autosomal recessive disease where there is a deficiency of acid alpha-glucosidase (GAA), an enzyme required for lysosomal glycogen degradation. We describe tw
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f1f778fabdeeeeed78265770e769afc6
https://pubmed.ncbi.nlm.nih.gov/25418145
https://pubmed.ncbi.nlm.nih.gov/25418145
Autor:
Pablo, Cabezudo García, Esther, Moreno Medinilla, Rocío, Calvo Medina, María Dolores, Mora Ramírez, Jacinto, Martínez Antón
Publikováno v:
Archivos argentinos de pediatria. 113(3)
Duchenne muscular dystrophy is the most common form of muscular dystrophy, with an incidence of 1/3300 male live births and a prevalence rate in the total population of 3/100000 individuals. It is often hereditary (X-linked recessive) but sporadic ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::60fa04d58a7e5592f551251e9f372568
https://pubmed.ncbi.nlm.nih.gov/25996334
https://pubmed.ncbi.nlm.nih.gov/25996334