Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Cristina Martín Higueras"'
Autor:
Patricia Yuste-Checa, Ana I Vega, Cristina Martín-Higueras, Celia Medrano, Alejandra Gámez, Lourdes R Desviat, Magdalena Ugarte, Celia Pérez-Cerdá, Belén Pérez
Publikováno v:
PLoS ONE, Vol 12, Iss 6, p e0179456 (2017)
Pathogenic mutations in DPAGT1 are manifested as two possible phenotypes: congenital disorder of glycosylation DPAGT1-CDG (also known as CDG-Ij), and limb-girdle congenital myasthenic syndrome (CMS) with tubular aggregates. UDP-N-acetylglucosamine-do
Externí odkaz:
https://doaj.org/article/089610f69b7e4e0bb028e1b279a8678b
Autor:
José A. Gómez-Vidal, Mónica Díaz-Gavilán, Francisco Franco-Montalban, Maria Dolores Moya-Garzon, Eduardo Salido, Manuela Romera, Cristina Martín Higueras, Pablo Peñalver, Miguel X. Fernandes
Publikováno v:
Journal of medicinal chemistry. 61(16)
Primary hyperoxaluria type 1 (PH1) is a rare life-threatening genetic disease related to glyoxylate metabolism and characterized by accumulation of calcium oxalate crystals. Current therapies involve hepatic and/or renal transplantation, procedures t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a61e75a92a3e86b052f9e3324e29b2d
https://pubmed.ncbi.nlm.nih.gov/30028141
https://pubmed.ncbi.nlm.nih.gov/30028141