Repositorio Dspace

Listar por tema "Neonatal Screening/methods"

Listar por tema "Neonatal Screening/methods"

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  • Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain 
    Luz-Couce, María; Sánchez-Pintos, Paula; Aldamiz-Echevarria, Luis; Vitoria, Isidro; Navas, Victor; Martin-Hernández, Elena; García-Volpe, Camila; Pintos, Guillem; Peña-Quintana, Luis; Hernández, Tomás; Gil, David; Sánchez-Valverde, Félix; Bueno, María; Roca, Iria; López-Ruzafa, Encarna; Díaz-Fernández, Carmen (LIPPINCOTT WILLIAMS & WILKINS, 2019-09)
    Treatment with nitisinone (NTBC) has brought about a drastic improvement in the treatment and prognosis of hereditary tyrosinemia type I (HT1). We conducted a retrospective observational multicentric study in Spanish HT1 ...
  • Follow-up protocol of patients with cystic fibrosis diagnosed by newborn screening 
    Gartner, Silvia; Mondéjar-López, Pedro; Asensio-de-la-Cruz, Oscar; Alonso, María-José; Álvarez, Marina; Andres-Martin, Anselmo; Barrio-Gómez-de-Aguero, María-Isabel; Cabero-Pérez, María-Jesús; Caro-Aguilera, Pilar; Cols-Roig, María; Cortell-Aznar-Pérez, Isidoro; Costa-Colomer, Jordi; Delgado-Pecellin, Isabel; Escribano-Montaner, Amparo; Figuerola-Mulet, Joan; García-Hernández, Gloria; Guayarte, Pilar; Gil-Ortega, David; Gómez-Pastrana, David; Lamas-Ferreiro, Adelaida; Marín-Soria, Jose-Luis; Martín-de-Vicente, Carlos; Navarro-Merino, Martin; Oliva-Hernández, Concepcion; Pérez-Frias, Javier; Pérez-Ruiz, Estela; Rovira-Amigo, Sandra; Salcedo-Posadas, Antonio; Sánchez-Solís, Manuel; Sirvent-Gómez, Josep; Vázquez-Cordero, Carlos; Villa-Asensi, José-Ramón (EDICIONES DOYMA S A, 2019-04)
    Newborn screening (NBS) for cystic fibrosis (CF) is well-established in many countries and provides the opportunity for an early diagnosis and treatment before the development of irreversible structural lung damage. In ...
  • Metabolic Serendipities of Expanded Newborn Screening 
    Yahyaoui, Raquel; Blasco-Alonso, Javier; Gonzalo-Marin, Montserrat; Benito, Carmen; Serrano-Nieto, Juliana; González-Gallego, Inmaculada; Ruiz-Sala, Pedro; Pérez, Belén; González-Lamuno, Domingo (MDPI, 2020-09)
    Incidental findings on newborn screening (NBS) are results that are not the target of screening within a given NBS program, but rather are found as a result of the screening and resulting diagnostic workup for that target. ...