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The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases.
Mathis, Déborah; Croft, Joanne; Chrastina, Petr; Fowler, Brian; Vianey-Saban, Christine; Ruijter, George J G.
Afiliação
  • Mathis D; University Institute of Clinical Chemistry, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
  • Croft J; Department of Clinical Chemistry and Newborn Screening, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
  • Chrastina P; Department of Pediatrics and Inherited Metabolic Disorders, General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.
  • Fowler B; University Children's Hospital Basel, University Children's Hospitals Zürich, Basel and Zürich, Switzerland.
  • Vianey-Saban C; Division of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Biology, CHU de Lyon, Lyon, France.
  • Ruijter GJG; Department of Clinical Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, Rotterdam, The Netherlands.
J Inherit Metab Dis ; 45(5): 926-936, 2022 09.
Article em En | MEDLINE | ID: mdl-35560233
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças por Armazenamento dos Lisossomos / Doenças Metabólicas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Suíça
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças por Armazenamento dos Lisossomos / Doenças Metabólicas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Suíça