Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Daniel Cuadras"'
Autor:
Antonio, Martinez-Monseny, Daniel, Cuadras, Mercè, Bolasell, Jordi, Muchart, César, Arjona, Mar, Borregan, Adi, Algrabli, Raquel, Montero, Rafael, Artuch, Ramón, Velázquez-Fragua, Alfons, Macaya, Celia, Pérez-Cerdá, Belén, Pérez-Dueñas, Belén, Pérez, Mercedes, Serrano, Oscar, Garcia
Publikováno v:
Journal of Medical Genetics. 56:236-245
IntroductionPhosphomannomutase-2 deficiency (PMM2-CDG) is associated with a recognisable facial pattern. There are no early severity predictors for this disorder and no phenotype–genotype correlation. We performed a detailed dysmorphology evaluatio
Autor:
Luis González Gutiérrez-Solana, Alfons Macaya, Daniel Cuadras, Ana Felipe, L. López, Belén Pérez-Dueñas, Natalia Lourdes Serrano, Ramón Velázquez-Fragua, Antonio Martinez Monseny, Mercedes Serrano, Victor De Diego
Publikováno v:
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-6 (2017)
Orphanet Journal of Rare Diseases
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Consejería de Sanidad de la Comunidad de Madrid
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-6 (2017)
Orphanet Journal of Rare Diseases
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Background We aim to delineate the progression of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) using the International Cooperative Ataxia Rating Scale (ICARS). We sought correlation between cerebellar volumetry and cl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c08692e7c9e750ddfc6990b305771a2
https://ddd.uab.cat/record/253984
https://ddd.uab.cat/record/253984
Autor:
C. Sierra-Córcoles, V. de Diego, M.C. Miranda, M. T. Garcia-Silva, Eduardo López-Laso, Antonio Martinez-Monseny, R. Cancho Candela, B. Robles, F. Carratalá, Raquel Montero, Belén Pérez-Dueñas, Celia Pérez-Cerdá, Mercedes Serrano, Belén Pérez, L. López, Daniel Cuadras, Alfons Macaya, Ana Felipe, Sergio Aguilera-Albesa, Andrea Poretti, Oscar Jerez García, Rafael Artuch, M.L. Carrasco Marina, Jordi Muchart, M.P. Póo, Pilar Quijada-Fraile, Ramón Velázquez-Fragua, Luis González Gutiérrez-Solana, María L. Couce
Publikováno v:
Journal of Inherited Metabolic Disease. 40:753-754
Due to an unfortunate error during the typesetting process, the collaborators were presented incorrectly. Collaborators of the CDG Spanish-Consortium Sergio Aguilera-Albesa, MD PhD1 Ramon Cancho Candela, MD PhD2Ma Llanos CarrascoMarina,MD3 Francisco