Browsing by Subject "Phenylketonuria"

Now showing items 1-4 of 4

    • Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey 
      Poloni, Soraia; Dos Santos, Bruna Bento; Chiesa, Ana; Specola, Norma; Pereyra, Marcela; Saborío Rocafort, Manuel; Salazar, María Florencia; Leal Witt, María Jesús; Castro, Gabriela; Peñaloza, Felipe; Palma Wong, Sunling; Badilla Porras, Ramsés; Ortiz Paranza, Lourdes; Sanabria, Marta Cristina; Vela Amieva, Marcela; Morales, Marco; Caro Naranjo, Amanda Rocío; Mahfoud, Antonieta; Colmenares, Ana Rosa; Lemes, Aida; Sotillo Lindo, José Fernando; Pérez, Ceila; Martínez Rey, Laritza; Zayas Torriente, Georgina María; Farret Refosco, Lilia; Doederlein Schwartz, Ida Vanessa; Cornejo Espinoza, Verónica (MDPI, 2021)
      This study aimed to describe the current practices in the diagnosis and dietary management of phenylketonuria (PKU) in Latin America, as well as the main barriers to treatment. We developed a 44-item online survey aimed ...
    • First-year metabolic control guidelines and their impact on future metabolic control and neurocognitive ... 
      Parra, Alicia de la; García, María Ignacia; Hamilton, Valerie; Arias Pefaur, Carolina; Cabello Andrade, Juan Francisco; Cornejo Espinoza, Verónica (Elsevier, 2017)
      There is a consensus on the importance of early and life-long treatment for PKU patients. Still, differences existon target blood phenylalanine (Phe) concentrations for children with PKU in different countries and ...
    • 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 ...
    • Treatment adherence during childhood in individuals with phenylketonuria: early signs of treatment discontinuation 
      Lagos García, María Ignacia; Araya, Gabriela; Coo, Soledad; Waisbren, Susan E.; Parra, Alicia de la (Elsevier, 2017)
      Introduction: Phenylketonuria (PKU) is an autosomal recessive disorder characterized by a deficiency in phenylalanine (Phe) hydroxylase activity. Early diagnosis and continuous treatment with a low Phe diet prevents ...