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Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias.
Stojiljkovic, M; Klaassen, K; Djordjevic, M; Sarajlija, A; Brasil, S; Kecman, B; Grkovic, S; Kostic, J; Rodriguez-Pombo, P; Desviat, L R; Pavlovic, S; Perez, B.
Afiliación
  • Stojiljkovic M; Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia.
  • Klaassen K; Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia.
  • Djordjevic M; Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic", School of Medicine, University of Belgrade, Belgrade, Serbia.
  • Sarajlija A; Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic", School of Medicine, University of Belgrade, Belgrade, Serbia.
  • Brasil S; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biologia Molecular, Universidad Autonoma de Madrid, CBMSO, UAM, CIBERER, Madrid, Spain.
  • Kecman B; Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic", School of Medicine, University of Belgrade, Belgrade, Serbia.
  • Grkovic S; Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic", School of Medicine, University of Belgrade, Belgrade, Serbia.
  • Kostic J; Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia.
  • Rodriguez-Pombo P; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biologia Molecular, Universidad Autonoma de Madrid, CBMSO, UAM, CIBERER, Madrid, Spain.
  • Desviat LR; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biologia Molecular, Universidad Autonoma de Madrid, CBMSO, UAM, CIBERER, Madrid, Spain.
  • Pavlovic S; Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia.
  • Perez B; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biologia Molecular, Universidad Autonoma de Madrid, CBMSO, UAM, CIBERER, Madrid, Spain.
Clin Genet ; 90(3): 252-7, 2016 09.
Article en En | MEDLINE | ID: mdl-26830710
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteínas de Transporte de Membrana Mitocondrial / Metilmalonil-CoA Descarboxilasa / 3-Metil-2-Oxobutanoato Deshidrogenasa (Lipoamida) / Acidemia Propiónica / Errores Innatos del Metabolismo de los Aminoácidos / Enfermedad de la Orina de Jarabe de Arce Tipo de estudio: Prognostic_studies Límite: Female / Humans / Infant / Male / Newborn Idioma: En Revista: Clin Genet Año: 2016 Tipo del documento: Article
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteínas de Transporte de Membrana Mitocondrial / Metilmalonil-CoA Descarboxilasa / 3-Metil-2-Oxobutanoato Deshidrogenasa (Lipoamida) / Acidemia Propiónica / Errores Innatos del Metabolismo de los Aminoácidos / Enfermedad de la Orina de Jarabe de Arce Tipo de estudio: Prognostic_studies Límite: Female / Humans / Infant / Male / Newborn Idioma: En Revista: Clin Genet Año: 2016 Tipo del documento: Article