Portrait of Hungtinton’s Disease in the Valencian Region: a cross-sectional study

Autor: C Cavero Carbonell, L Páramo-Rodríguez, S Moreno-Marro, L Barrachina-Bonet, M De la Natividad, S Guardiola-Vilarroig, O Zurriaga

Publikováno v: European Journal of Public Health. 31

Background Huntington Disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by involuntary choreic movements and behavioural/psychiatric disorders, which compromises the quality of life. Objective To identify t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0c82086a906093112e5b69c6ff2e6058
https://doi.org/10.1093/eurpub/ckab165.239

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Folic acid supplementation in the Congenital Anomalies population-based registry in a Spanish Region

Autor: C Cavero-Carbonell, L Barrachina-Bonet, L García-Villodre, L Páramo-Rodríguez, S Guardiola-Vilarroig, O Zurriaga

Publikováno v: EUROPEAN JOURNAL OF PUBLIC HEALTH
r-FISABIO. Repositorio Institucional de Producción Científica
instname

Background The Congenital Anomalies (CA) population-based registry of Valencian Region (RPACCV) has identified 11376 cases, live births (LB) and stillbirths (SB), between 2007-2018 with at least 1 major CA, diagnosed prenatally or up to 1 year old. T

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c172b83f36521724efcf976cfa574da
https://fundanet.fisabio.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=12506

Tuberous Sclerosis: a disease systematically monitored by the Rare Diseases Registries in Spain

Autor: C Cavero Carbonell, P Botella, Oscar Zurriaga, M De La Natividad Palomares, S Guardiola Vilarroig

Publikováno v: EUROPEAN JOURNAL OF PUBLIC HEALTH
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
Web of Science
r-FISABIO. Repositorio Institucional de Producción Científica
instname

Background Tuberous Sclerosis (TS) is a rare genetic disease that causes hamartomas and neuropsychiatric disorders. Objective to determine the prevalence and its evolution in the Valencian Region in the period 2010-2017. Methods Through the informati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb8c6e5960c3ef32134afe009c4b5f6c
https://fundanet.fisabio.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=9050