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Molecular and histologic insights on early onset cardiomyopathy in Danon disease females.
Fernández, Luis; Casamayor Polo, Laura; Bravo García-Morato, María; Enguita Valls, Ana Belén; Ruiz-Bravo, Elena; Muñoz-Cabello, Patricia; Ibáñez, Kristina; Rodríguez-Laguna, Lara; Martín-Arenas, Rubén; Ortega, Marta; Palomares-Bralo, María; Del Pozo, Ángela; García-Guereta, Luis; García-Miñaúr, Sixto; Lapunzina, Pablo; Vallespín, Elena.
Afiliação
  • Fernández L; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz Research Institute (IdiPAZ), Hospital Universitario La Paz, Madrid, Spain.
  • Casamayor Polo L; Biomedical Research Network on Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), CB06/07/1005, U753, Madrid, Spain.
  • Bravo García-Morato M; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz Research Institute (IdiPAZ), Hospital Universitario La Paz, Madrid, Spain.
  • Enguita Valls AB; Biomedical Research Network on Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), CB06/07/1005, U753, Madrid, Spain.
  • Ruiz-Bravo E; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz Research Institute (IdiPAZ), Hospital Universitario La Paz, Madrid, Spain.
  • Muñoz-Cabello P; Biomedical Research Network on Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), CB06/07/1005, U753, Madrid, Spain.
  • Ibáñez K; Department of Anatomic Pathology, Hospital Universitario 12 de Octubre, Madrid, Spain.
  • Rodríguez-Laguna L; Department of Anatomic Pathology, Hospital Universitario La Paz, Madrid, Spain.
  • Martín-Arenas R; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz Research Institute (IdiPAZ), Hospital Universitario La Paz, Madrid, Spain.
  • Ortega M; Biomedical Research Network on Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), CB06/07/1005, U753, Madrid, Spain.
  • Palomares-Bralo M; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz Research Institute (IdiPAZ), Hospital Universitario La Paz, Madrid, Spain.
  • Del Pozo Á; Biomedical Research Network on Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), CB06/07/1005, U753, Madrid, Spain.
  • García-Guereta L; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz Research Institute (IdiPAZ), Hospital Universitario La Paz, Madrid, Spain.
  • García-Miñaúr S; Biomedical Research Network on Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), CB06/07/1005, U753, Madrid, Spain.
  • Lapunzina P; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz Research Institute (IdiPAZ), Hospital Universitario La Paz, Madrid, Spain.
  • Vallespín E; Biomedical Research Network on Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), CB06/07/1005, U753, Madrid, Spain.
Clin Genet ; 99(3): 481-483, 2021 03.
Article em En | MEDLINE | ID: mdl-33226119
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cardiomiopatia Hipertrófica / Doença de Depósito de Glicogênio Tipo IIb / Proteína 2 de Membrana Associada ao Lisossomo Tipo de estudo: Diagnostic_studies Limite: Female / Humans Idioma: En Revista: Clin Genet Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cardiomiopatia Hipertrófica / Doença de Depósito de Glicogênio Tipo IIb / Proteína 2 de Membrana Associada ao Lisossomo Tipo de estudo: Diagnostic_studies Limite: Female / Humans Idioma: En Revista: Clin Genet Ano de publicação: 2021 Tipo de documento: Article