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Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.
Hörster, Friederike; Tuncel, Ali Tunç; Gleich, Florian; Plessl, Tanja; Froese, Sean D; Garbade, Sven F; Kölker, Stefan; Baumgartner, Matthias R.
Afiliación
  • Hörster F; Division of Neuropediatrics and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Tuncel AT; Division of Neuropediatrics and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Gleich F; Division of Neuropediatrics and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Plessl T; Division of Metabolism and Children's Research Centre, University Children's Hospital Zurich, Zurich, Switzerland.
  • Froese SD; Division of Metabolism and Children's Research Centre, University Children's Hospital Zurich, Zurich, Switzerland.
  • Garbade SF; Division of Neuropediatrics and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Kölker S; Division of Neuropediatrics and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Baumgartner MR; Division of Metabolism and Children's Research Centre, University Children's Hospital Zurich, Zurich, Switzerland.
J Inherit Metab Dis ; 44(1): 193-214, 2021 01.
Article en En | MEDLINE | ID: mdl-32754920
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Vitamina B 12 / Proteínas de Transporte de Membrana Mitocondrial / Errores Innatos del Metabolismo de los Aminoácidos / Errores Innatos del Metabolismo / Metilmalonil-CoA Mutasa Tipo de estudio: Etiology_studies / Observational_studies / Prevalence_studies / Risk_factors_studies Límite: Child / Female / Humans / Male Idioma: En Revista: J Inherit Metab Dis Año: 2021 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Vitamina B 12 / Proteínas de Transporte de Membrana Mitocondrial / Errores Innatos del Metabolismo de los Aminoácidos / Errores Innatos del Metabolismo / Metilmalonil-CoA Mutasa Tipo de estudio: Etiology_studies / Observational_studies / Prevalence_studies / Risk_factors_studies Límite: Child / Female / Humans / Male Idioma: En Revista: J Inherit Metab Dis Año: 2021 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos