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Mutation analysis in 54 propionic acidemia patients.
Kraus, J P; Spector, E; Venezia, S; Estes, P; Chiang, P W; Creadon-Swindell, G; Müllerleile, S; de Silva, L; Barth, M; Walter, M; Walter, K; Meissner, T; Lindner, M; Ensenauer, R; Santer, R; Bodamer, O A; Baumgartner, M R; Brunner-Krainz, M; Karall, D; Haase, C; Knerr, I; Marquardt, T; Hennermann, J B; Steinfeld, R; Beblo, S; Koch, H G; Konstantopoulou, V; Scholl-Bürgi, S; van Teeffelen-Heithoff, A; Suormala, T; Ugarte, M; Sperl, W; Superti-Furga, A; Schwab, K O; Grünert, S C; Sass, J O.
Afiliação
  • Kraus JP; Department of Pediatrics, Colorado Intellectual and Developmental Disabilities Research Center (IDDRC), University of Colorado Denver, Anschutz Medical Campus, Aurora, CO 80045, USA. jan.kraus@ucdenver.edu
J Inherit Metab Dis ; 35(1): 51-63, 2012 Jan.
Article em En | MEDLINE | ID: mdl-22033733
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Análise Mutacional de DNA / Acidemia Propiônica Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2012 Tipo de documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Análise Mutacional de DNA / Acidemia Propiônica Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2012 Tipo de documento: Article