Výsledky vyhledávání - "Mireia Arroyo-Hernández"

Novel UGT1A1 Gene Mutations in a Boy with Crigler–Najjar Syndrome Type II

Autor: Mireia Arroyo-Hernández, Bárbara Montes-Zapico, María García-Hoyos, Ana-Cristina Rodríguez-Dehli, David Pérez-Solís

Publikováno v: J Pediatr Genet

In this article, we reported a patient with Crigler–Najjar syndrome type II with high-unconjugated bilirubin levels that decreased after phenobarbital treatment. The patient had two novel missense mutations in the UGT1A1 gene and a promoter variant

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b190f921e75528da0510fec13a391b7e
https://doi.org/10.1055/s-0040-1714361

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The Incidence of Glucose Disorders Related to Cystic Fibrosis Could Be Higher with Current Criteria (Re: Carbohydrate Metabolism Changes in Cystic Fibrosis. J Pediatr Endocrinol Metab 2007; 20: 621-663)

Autor: Mireia Arroyo Hernández, Lorena Miñones Suarez

Publikováno v: Journal of pediatric endocrinologymetabolism : JPEM. 21(6)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68927c2295a621a138a142d1c97a5337
https://pubmed.ncbi.nlm.nih.gov/17642423

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