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TITLE: Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula  Full Text
AUTHORS: Pilar Giraldo; Pilar Alfonso; Pilar Irun; Laura Gort; Amparo Chabas; Lluisa Vilageliu; Daniel Grinberg; Clara M S Sa Miranda ; Miguel Pocovi;
PUBLISHED: 2012, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 7, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
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TITLE: Identification and Functional Analyses of CBS Alleles in Spanish and Argentinian Homocystinuric Patients  Full Text
AUTHORS: Monica Cozar; Roser Urreizti; Laura Vilarinho; Carola Grosso; Raquel D Dodelson de Kremer; Carla G Asteggiano; Jaime Dalmau; Ana M Maria Garcia; Maria A Antonia Vilaseca; Daniel Grinberg; Susana Balcells;
PUBLISHED: 2011, SOURCE: HUMAN MUTATION, VOLUME: 32, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef
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TITLE: Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency  Full Text
AUTHORS: Urreizti, R; Moya Garcia, AA; Pino Angeles, A; Cozar, M; Langkilde, A; Fanhoe, U; Esteves, C; Arribas, J; Vilaseca, MA; Perez Duenas, B; Pineda, M; Gonzalez, V; Artuch, R; Baldellou, A; Vilarinho, L; Fowler, B; Ribes, A; Sanchez Jimenez, F; Grinberg, D; Balcells, S;
PUBLISHED: 2010, SOURCE: CLINICAL GENETICS, VOLUME: 78, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef