Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Virginia Roldan-cano"'
Autor:
Silvia Acuñas-Soto, Ana Castellano-Martinez, Almudena Alonso-Ojembarrena, Virginia Roldan-Cano, Moises Rodriguez-Gonzalez
Publikováno v:
Anales de Pediatría (English Edition), Vol 99, Iss 6, Pp 433-435 (2023)
Externí odkaz:
https://doaj.org/article/3d57aeaabc61417f98a0575454139846
Publikováno v:
JCRPE, Vol 14, Iss 3, Pp 344-349 (2022)
X-linked hypophosphatemia (XLH) is a rare genetic disorder with X-linked dominant inheritance. Mutations in the PHEX gene increase fibroblast growth factor 23 (FGF23) concentrations, causing loss of phosphorus at the proximal tubule. Most pediatric p
Externí odkaz:
https://doaj.org/article/774c4533a810405a8d13d5638b4bbf50
Autor:
Moises Rodriguez-Gonzalez, Ana Castellano-Martinez, Silvia Acuñas-Soto, Raquel De la Varga-Martinez, Francisco Mora-Lopez, Marianela Iriarte-Gahete, Virginia Roldan-Cano
Publikováno v:
Endocrine, Metabolic & Immune Disorders - Drug Targets. 22:888-894
Background: Schimke immuno-osseous dysplasia (SIOD) is a very rare autosomal recessive genetic disease caused by mutations in the SMARCAL1 gene. It is characterized by spondyloepiphyseal dysplasia, T-cell immunodeficiency, hypercromic nevi, hyperchol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e4efe8052fd731daede8b3c5064f6235
https://doi.org/10.2174/1871530322666220223154028
https://doi.org/10.2174/1871530322666220223154028
Autor:
Moises Rodriguez-Gonzalez, Virginia Roldan-Cano, Ana Castellano-Martinez, Patricia Morales-Arandojo
Publikováno v:
Anales de Pediatría. 96:452-454
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6ae89414b8ca407d127acc23a028759f
https://doi.org/10.1016/j.anpedi.2021.06.014
https://doi.org/10.1016/j.anpedi.2021.06.014
Publikováno v:
Medicina Clínica. 157:449-450
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3da233e148f342fd56106b525f87b6e3
https://doi.org/10.1016/j.medcli.2020.09.010
https://doi.org/10.1016/j.medcli.2020.09.010
Publikováno v:
Medicina Clínica (English Edition). 157:449-450
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0c33322d3f76cdd5b65b3c279d2ff4a1
https://doi.org/10.1016/j.medcle.2020.09.017
https://doi.org/10.1016/j.medcle.2020.09.017
Publikováno v:
Journal of clinical research in pediatric endocrinology. 14(3)
X-linked hypophosphatemia (XLH) is a rare genetic disorder with X-linked dominant inheritance. Mutations in the PHEX gene increase fibroblast growth factor 23 (FGF23) concentrations, causing loss of phosphorus at the proximal tubule. Most pediatric p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96437eb9ae0daade0b49d161a3b1e072
https://pubmed.ncbi.nlm.nih.gov/33783172
https://pubmed.ncbi.nlm.nih.gov/33783172
Autor:
Silvia Acuñas-Soto, Ana Castellano-Martínez, Almudena Alonso-Ojembarrena, Virginia Roldán-Cano, Moisés Rodríguez-González
Publikováno v:
Anales de Pediatría, Vol 99, Iss 6, Pp 433-435 (2023)
Externí odkaz:
https://doaj.org/article/da50c384f5e64274bfbe23def608cb3e
Publikováno v:
Anales de Pediatría, Vol 87, Iss 3, Pp 171-173 (2017)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3943708842a1bf7cb7cf577ab9c8fbc
https://doi.org/10.1016/j.anpedi.2016.10.012
https://doi.org/10.1016/j.anpedi.2016.10.012
Publikováno v:
Anales de Pediatría (English Edition), Vol 87, Iss 3, Pp 171-173 (2017)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a9965aa870d8d6ab4aa0130da4b6882
https://doi.org/10.1016/j.anpede.2016.10.014
https://doi.org/10.1016/j.anpede.2016.10.014