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Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA).
Ktena, Yiouli P; Paul, Scott M; Hauser, Natalie S; Sloan, Jennifer L; Gropman, Andrea; Manoli, Irini; Venditti, Charles P.
Afiliação
  • Ktena YP; Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
  • Paul SM; Rehabilitation Medicine Department, Clinical Center, National Institutes of Health, Bethesda, Maryland.
  • Hauser NS; Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
  • Sloan JL; Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
  • Gropman A; Center for Neuroscience Research (CNR), Children's National Medical Center, Washington, District of Columbia.
  • Manoli I; Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
  • Venditti CP; Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Am J Med Genet A ; 167A(9): 2075-84, 2015 Sep.
Article em En | MEDLINE | ID: mdl-25959030

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Pessoas com Deficiência / Erros Inatos do Metabolismo dos Aminoácidos / Necessidades e Demandas de Serviços de Saúde Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Pessoas com Deficiência / Erros Inatos do Metabolismo dos Aminoácidos / Necessidades e Demandas de Serviços de Saúde Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article