Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry

(This article belongs to the Special Issue Nutritional Treatment and Screening for Inherited Metabolic Diseases).

Bibliographic Details
Authors: Martín-Hernández, Elena, Bellusci, Marcello, Pérez-Mohand, Patricia, Correcher Medina, Patricia, Blasco-Alonso, Javier, Morais-López, Ana, de las Heras, Javier, Meavilla Olivas, Silvia María, Dougherty-de Miguel, Lucy, Couce, María Luz, Villarroya, Elvira Cañedo, García Jiménez, María Concepción, Moreno-Lozano, Pedro Juan, Vives, Inmaculada, Gil-Campos, Mercedes, Stanescu, Sinziana, Ceberio-Hualde, Leticia, Camprodón, María, Cortès-Saladelafont, Elisenda, López-Urdiales, Rafael, Murray Hurtado, Mercedes, Márquez Armenteros, Ana María, Sierra Córcoles, Concha, Peña-Quintana, Luis, Ruiz-Pons, Mónica, Alcalde, Carlos, Castellanos-Pinedo, Fernando, Dios, Elena, Barrio-Carreras, Delia, Martín-Cazaña, María, García-Peris, Mónica, Andrade, José David, García-Volpe, Camila, de los Santos, Mariela, García-Cazorla, Angels, del Toro, Mireia, Felipe-Rucián, Ana, Comino Monroy, María José, Sánchez-Pintos, Paula, Matas, Ana, Gil Ortega, David, Martín-Rivada, Álvaro, Bergua, Ana, Belanger-Quintana, Amaya, Vitoria, Isidro, Yahyaoui, Raquel, Pérez, Belén, Morales-Conejo, Montserrat, Quijada-Fraile, Pilar
Format: article
Status:Published version
Publication Date:2025
Country:España
Institution:Consejo Superior de Investigaciones Científicas (CSIC)
Repository:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/385752
Online Access:http://hdl.handle.net/10261/385752
Access Level:Open access
Keyword:Urea cycle disorders (UCDs)
Arginase 1 (ARG1)
Argininosuccinate lyase (ASL)
Argininosuccinate synthetase (ASS1)
Carbonic anhydrase VA (CA-VA)
Citrin
Carbamoylphosphate synthetase (CPS1)
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH)
N-acetylglutamate synthase (NAGS)
Ornithine/citrulline antiporter (ORNT)
Ornithine transcarbamylase (OTC)
Description
Summary:(This article belongs to the Special Issue Nutritional Treatment and Screening for Inherited Metabolic Diseases).

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