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Very long-chain acyl-CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics.
Olsson, David; Barbaro, Michela; Haglind, Charlotte; Halldin, Maria; Lajic, Svetlana; Tucci, Sara; Zetterström, Rolf H; Nordenström, Anna.
Afiliação
  • Olsson D; Department of Women's and Children's Health, Unit for Pediatric Endocrinology and Metabolic Disorders Karolinska Institutet/Karolinska University Hospital Stockholm Sweden.
  • Barbaro M; Center for Inherited Metabolic Diseases, CMMS Karolinska University Hospital Stockholm Sweden.
  • Haglind C; Department of Molecular Medicine and Surgery Karolinska Institutet Stockholm Sweden.
  • Halldin M; Department of Women's and Children's Health, Unit for Pediatric Endocrinology and Metabolic Disorders Karolinska Institutet/Karolinska University Hospital Stockholm Sweden.
  • Lajic S; Department of Women's and Children's Health, Unit for Pediatric Endocrinology and Metabolic Disorders Karolinska Institutet/Karolinska University Hospital Stockholm Sweden.
  • Tucci S; Department of Women's and Children's Health, Unit for Pediatric Endocrinology and Metabolic Disorders Karolinska Institutet/Karolinska University Hospital Stockholm Sweden.
  • Zetterström RH; Department of General Pediatrics, Adolescent Medicine and Neonatology Medical Centre-University of Freiburg, Faculty of Medicine Freiburg Germany.
  • Nordenström A; Center for Inherited Metabolic Diseases, CMMS Karolinska University Hospital Stockholm Sweden.
JIMD Rep ; 63(2): 181-190, 2022 Mar.
Article em En | MEDLINE | ID: mdl-35281659
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Idioma: En Revista: JIMD Rep Ano de publicação: 2022 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: Diagnostic_studies / Prognostic_studies / Screening_studies Idioma: En Revista: JIMD Rep Ano de publicação: 2022 Tipo de documento: Article