Browsing by Subject "Newborn screening"

Now showing items 1-2 of 2

    • 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 ...
    • Pompe disease: Clinical perspectives 
      Cabello Andrade, Juan Francisco; Marsden, Deborah (Dove Medical, 2017)
      Pompe disease (acid alpha-glucosidase deficiency, OMIM 232300) is a rare lysosomal storage disorder due to autosomal recessive mutations in the GAA gene. It has also been called acid maltase deficiency and glycogen storage ...