Zobrazeno 1 - 6
of 6
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
Publikováno v:
Nephrology Dialysis Transplantation; Jun2019, Vol. 34 Issue 6, p908-914, 7p, 1 Diagram
Autor:
Franz Schaefer, Larry A. Greenbaum
The extensively revised third edition of this text offers an in-depth practical guide to clinical conditions encountered in pediatric nephrology. Extensively updated disease-specific chapters offer detailed coverage of relevant basic science, diagnos
Autor:
Nicola Brunetti-Pierri
In this book, leading international experts analyze state-of-the-art advances in gene transfer vectors for applications in inherited disorders and also examine the toxicity profiles of these methods. The authors discuss the strengths and weaknesses o
Autor:
Nenad Blau, Carlo Dionisi Vici, Carlos R. Ferreira, Christine Vianey-Saban, Clara D. M. van Karnebeek
This updated and enlarged second edition is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for clinician