TY  - JOUR
AU  - Martín-Hernández, Elena
AU  - Aldámiz-Echevarría, Luis
AU  - Castejón-Ponce, Esperanza
AU  - Pedrón-Giner, Consuelo
AU  - Couce, María Luz
AU  - Serrano-Nieto, Juliana
AU  - Pintos-Morell, Guillem
AU  - Bélanger-Quintana, Amaya
AU  - Martínez-Pardo, Mercedes
AU  - García-Silva, María Teresa
AU  - Quijada-Fraile, Pilar
AU  - Vitoria-Miñana, Isidro
AU  - Dalmau, Jaime
AU  - Lama-More, Rosa A
AU  - Bueno-Delgado, María Amor
AU  - Del Toro-Riera, Mirella
AU  - García-Jiménez, Inmaculada
AU  - Sierra-Córcoles, Concepción
AU  - Ruiz-Pons, Mónica
AU  - Peña-Quintana, Luis J
AU  - Vives-Piñera, Inmaculada
AU  - Moráis, Ana
AU  - Balmaseda-Serrano, Elena
AU  - Meavilla, Silvia
AU  - Sanjurjo-Crespo, Pablo
AU  - Pérez-Cerdá, Celia
PY  - 2014
DO  - 10.1186/s13023-014-0187-4
UR  - http://hdl.handle.net/10668/2678
T2  - Orphanet Journal of Rare Diseases
AB  - Background: 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.MethodsObservational,...
LA  - en
PB  - Biomed Central
KW  - Urea cycle disorders
KW  - UCDs
KW  - N-acetylglutamate synthase
KW  - Carbamoylphosphate synthase 1
KW  - Ornithine transcarbamylase
KW  - Argininosuccinate synthetase
KW  - Citrullinemia type 1
KW  - Argininosuccinate lyase
KW  - Argininosuccinic
KW  - Arginase 1
KW  - Trastornos innatos del ciclo de la urea
KW  - España
KW  - Estudios transversales
KW  - Medical Subject Headings::Persons::Persons::Age Groups::Adolescent
KW  - Medical Subject Headings::Persons::Persons::Age Groups::Adult
KW  - Medical Subject Headings::Persons::Persons::Age Groups::Child
KW  - Medical Subject Headings::Persons::Persons::Age Groups::Child::Child, Preschool
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Cross-Sectional Studies
KW  - Medical Subject Headings::Check Tags::Female
KW  - Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
KW  - Medical Subject Headings::Persons::Persons::Age Groups::Infant
KW  - Medical Subject Headings::Check Tags::Male
KW  - Medical Subject Headings::Geographical Locations::Geographic Locations::Europe::Spain
KW  - Medical Subject Headings::Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Amino Acid Metabolism, Inborn Errors
KW  - Medical Subject Headings::Persons::Persons::Age Groups::Adult::Young Adult
KW  - Medical Subject Headings::Geographical Locations::Geographic Locations::Europe::Spain
TI  - Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases
TY  - research article
ER  -