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Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report.
Brennerová, Katarína; Skopková, Martina; Ostrozlíková, Mária; Saligová, Jana; Staník, Juraj; Bzdúch, Vladimír; Gasperíková, Daniela.
Afiliación
  • Brennerová K; Department of Paediatrics, Medical Faculty of Comenius University and National Institute for Children's Diseases, Limbová 1, 833 40, Bratislava, Slovakia.
  • Skopková M; Laboratory of Diabetes and Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Dúbravská cesta 9, 845 05, Bratislava, Slovakia.
  • Ostrozlíková M; Department of Laboratory Medicine, National Institute for Children's Diseases, Limbova 1, 833 40, Bratislava, Slovakia.
  • Saligová J; Department of Paediatrics, Medical Faculty of P. J. Safárik University in Kosice, Trieda SNP 1, 040 11, Kosice, Slovakia.
  • Staník J; Department of Paediatrics, Medical Faculty of Comenius University and National Institute for Children's Diseases, Limbová 1, 833 40, Bratislava, Slovakia.
  • Bzdúch V; Laboratory of Diabetes and Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Dúbravská cesta 9, 845 05, Bratislava, Slovakia.
  • Gasperíková D; Department of Paediatrics, Medical Faculty of Comenius University and National Institute for Children's Diseases, Limbová 1, 833 40, Bratislava, Slovakia.
BMC Pediatr ; 21(1): 578, 2021 12 16.
Article en En | MEDLINE | ID: mdl-34915869
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Errores Innatos del Metabolismo de los Aminoácidos Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans / Newborn Idioma: En Año: 2021 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Errores Innatos del Metabolismo de los Aminoácidos Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans / Newborn Idioma: En Año: 2021 Tipo del documento: Article