Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases

Advances in the diagnosis and treatment of urea cycle disorders (UCDs) have led to a higher survival rate. The purpose of this study is to describe the characteristics of patients with urea cycle disorders in Spain. Observational, cross-sectional and multicenter study. Clinical, biochemical and gene...

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Veröffentlicht in:	Orphanet journal of rare diseases 2014-11, Vol.9 (1), p.187-187, Article 187
Hauptverfasser:	Martín-Hernández, Elena, Aldámiz-Echevarría, Luis, Castejón-Ponce, Esperanza, Pedrón-Giner, Consuelo, Couce, María Luz, Serrano-Nieto, Juliana, Pintos-Morell, Guillem, Bélanger-Quintana, Amaya, Martínez-Pardo, Mercedes, García-Silva, María Teresa, Quijada-Fraile, Pilar, Vitoria-Miñana, Isidro, Dalmau, Jaime, Lama-More, Rosa A, Bueno-Delgado, María Amor, Del Toro-Riera, Mirella, García-Jiménez, Inmaculada, Sierra-Córcoles, Concepción, Ruiz-Pons, Mónica, Peña-Quintana, Luis J, Vives-Piñera, Inmaculada, Moráis, Ana, Balmaseda-Serrano, Elena, Meavilla, Silvia, Sanjurjo-Crespo, Pablo, Pérez-Cerdá, Celia
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Analysis Arginine Care and treatment Child Child, Preschool Cross-Sectional Studies Female Humans Infant Infants (Newborn) Ligases Male Spain - epidemiology Urea Cycle Disorders, Inborn - diagnosis Urea Cycle Disorders, Inborn - epidemiology Urea Cycle Disorders, Inborn - genetics Young Adult
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