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Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations.
Wesól-Kucharska, Dorota; Kaczor, Magdalena; Pajdowska, Magdalena; Ehmke Vel Emczynska-Seliga, Ewa; Bogdanska, Anna; Kozlowski, Dariusz; Piekutowska-Abramczuk, Dorota; Ciara, Elzbieta; Rokicki, Dariusz.
Afiliação
  • Wesól-Kucharska D; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's, Health Institute, Warsaw, Poland.
  • Kaczor M; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's, Health Institute, Warsaw, Poland.
  • Pajdowska M; Department of Biochemistry, Radioimmunology and Experimental Medicine, The Children's Memorial Health Institute, Warsaw, Poland.
  • Ehmke Vel Emczynska-Seliga E; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's, Health Institute, Warsaw, Poland.
  • Bogdanska A; Department of Biochemistry, Radioimmunology and Experimental Medicine, The Children's Memorial Health Institute, Warsaw, Poland.
  • Kozlowski D; Department of Biochemistry, Radioimmunology and Experimental Medicine, The Children's Memorial Health Institute, Warsaw, Poland.
  • Piekutowska-Abramczuk D; Department of Medical Genetics, The Children's Memorial Health Institute, Poland.
  • Ciara E; Department of Medical Genetics, The Children's Memorial Health Institute, Poland.
  • Rokicki D; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's, Health Institute, Warsaw, Poland.
Mol Genet Metab Rep ; 22: 100559, 2020 Mar.
Article em En | MEDLINE | ID: mdl-31921599
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2020 Tipo de documento: Article