Browsing by Author "Correcher, Patricia"

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      Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain 

      Martín Hernández, Elena; Quijada Fraile, Pilar; Correcher, Patricia; Meavilla, Silvia; Sánchez Pintos, Paula; De las Heras Montero, Javier Adolfo; Blasco Alonso, Javier; Dougherty, Lucy; Márquez, Ana; Peña Quintana, Luis; Cañedo, Elvira; García Jimenez, María Concepción; Moreno Lozano, Pedro Juan; Murray Hurtado, Mercedes; Camprodon Gómez, María; Barrio-Carreras, Delia; de los Santos, Mariela; del Toro, Mireia; Couce, María L.; Vitoria Miñana, Isidro; Morales Conejo, Montserrat; Bellusci, Marcello (MDPI, 2022-08-28)
      Background and objectives: Glycerol phenylbutyrate (GPB) has demonstrated safety and efficacy in patients with urea cycle disorders (UCDs) by means of its clinical trial program, but there are limited data in clinical ...
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      Transferrin Isoforms, Old but New Biomarkers 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 (MDPI, 2021-06-30)
      Hereditary Fructose Intolerance (HFI) is an autosomal recessive inborn error of metabolism characterised by the deficiency of the hepatic enzyme aldolase B. Its treatment consists in adopting a fructose-, sucrose-, and ...
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      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 ...