Browsing by Subject "Deficiency"

Now showing items 1-5 of 5

    • Interpretation of Serum Retinol Data From Latin America and the Caribbean 
      Cediel, Gustavo; Olivares Grohnert, Manuel; Brito, Alex; López de Romaña, Daniel; Cori, Héctor; La Frano, Michael R. (SAGE, 2015)
      Background: In recent decades, the general socioeconomic situation in Latin America and the Caribbean countries has improved, and many vitamin A programs have been implemented in an attempt to reduce vitamin A deficiency ...
    • Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of ... 
      Gallego, Diana; Leal, Fatima; Gámez, Alejandra; Castro, Margarita; Navarrete, Rosa; Sánchez Lijarcio, Obdulia; Vitoria, Isidro; Bueno Delgado, María; Belanger Quintana, Amaya; Morais, Ana; Pedrón Giner, Consuelo; García, Inmaculada; Campistol, Jaume; Artuch, Rafael; Alcaide, Carlos; Cornejo Espinoza, Verónica; Gil, David; Yahyaoui, Raquel; Desviat, Lourdes R.; Ugarte, Magdalena; Martínez, Aurora; Pérez, Belén (Wiley, 2020)
      Biallelic variants of the gene DNAJC12, which encodes a cochaperone, were recently described in patients with hyperphenylalaninemia (HPA). This paper reports the retrospective genetic analysis of a cohort of unsolved cases ...
    • Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal ... 
      Lacassie, Yves; Johnson, Britt; Lay-Son, Guillermo; Quintana, Rita; King, Andrew; Cortés, Fanny; Álvarez, Cecilia; Gómez, Ricardo; Vargas, Alfonso; Chalew, Stuart; King, Alejandra; Guardia, Sylvia; Sorensen, Ricardo U.; Aradhya, Swaroop (Wiley, 2020)
      Autosomal recessive SOPH syndrome was first described in the Yakuts population of Asia by Maksimova et al. in 2010. It arises from biallelic pathogenic variants in the NBAS gene and is characterized by severe postnatal ...
    • Vitamin D deficiency in pediatric clinical practice 
      Cediel, Gustavo; Pacheco Acosta, Johanna; Castillo Durán, Carlos (Sociedad Argentina de Pediatría, 2018)
      Vitamin D research suggests it has a role in disorders other than bone metabolism. Objective: To update the information on vitamin D deficiency (VDD) in pediatric clinical disorders. Methods: Search in virtual ...
    • Zinc Deficiency in Latin America and the Caribbean 
      Cediel, Gustavo; Olivares Grohnert, Manuel; Brito, Alex; Cori, Héctor; López de Romaña, Daniel (SAGE, 2015)
      Background: Zinc deficiency affects multiple vital functions in the life cycle, especially growth. Limited information is available on the magnitude of zinc deficiency in Latin America and the Caribbean. Objective: To ...