Examinar Artículos por departamento (eus.) "Pediatria"

Now showing items 101-102 of 102

    • Thumbnail

      Variants of STAR, AMH and ZFPM2/FOG2 May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of NR5A1 

      Martínez de la Piscina Martín, Idoia; Mahmoud, Rana A. A.; Sauter, Kay Sara; Esteva, Isabel; Alonso, Milagros; Costa, Ines; Rial Rodíguez, Jóse Manuel; Rodríguez Estévez, Amaia; Vela Desojo, Amaia; Castaño González, Luis Antonio ORCID; Flück, Christa E. (MDPI, 2020-11-13)
      Variants of NR5A1 are often found in individuals with 46,XY disorders of sex development (DSD) and manifest with a very broad spectrum of clinical characteristics and variable sex hormone levels. Such complex phenotypic ...
    • Thumbnail

      Vitamin C and folate status in hereditary fructose intolerance 

      Cano San José, Ainara; Alcalde, Carlos; Belanger Quintana, Amaya; Cañedo Villarroya, Elvira; Ceberio, Leticia; Chumillas Calzada, Silvia; Correcher, Patricia; Couce, María Luz; García Arenas, Dolores; Gómez, Igor; Hernández, Tomás; Izquierdo García, Elsa; Martínez Chicano, Dámaris; Morales, Montserrat; Pedrón Giner, Consuelo; Petrina Jáuregui, Estrella; Peña Quintana, Luis; Sánchez Pintos, Paula; Serrano Nieto, Juliana; Unceta Suárez, María; Vitoria Miñana, Isidro; De las Heras Montero, Javier Adolfo (SpringerNature, 2022-12)
      Background Hereditary fructose intolerance (HFI) is a rare inborn error of fructose metabolism caused by the deficiency of aldolase B. Since treatment consists of a fructose-, sucrose- and sorbitol-restrictive diet for ...