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An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio.
Vaz, Frédéric M; van Lenthe, Henk; Vervaart, Martin A T; Stet, Femke S; Klinkspoor, Johanne H; Vernon, Hilary J; Goorden, Susan M I; Houtkooper, Riekelt H; Kulik, Willem; Wanders, Ronald J A.
Afiliación
  • Vaz FM; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Departments of Clinical Chemistry and Pediatrics, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.
  • van Lenthe H; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Vervaart MAT; Core Facility Metabolomics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Stet FS; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Departments of Clinical Chemistry and Pediatrics, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.
  • Klinkspoor JH; Core Facility Metabolomics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Vernon HJ; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Departments of Clinical Chemistry and Pediatrics, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.
  • Goorden SMI; Core Facility Metabolomics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Houtkooper RH; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Departments of Clinical Chemistry and Pediatrics, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.
  • Kulik W; Core Facility Metabolomics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Wanders RJA; Central Diagnostic Laboratory, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
J Inherit Metab Dis ; 45(1): 29-37, 2022 01.
Article en En | MEDLINE | ID: mdl-34382226
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Lisofosfolípidos / Linfocitos / Cardiolipinas / Síndrome de Barth Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: J Inherit Metab Dis Año: 2022 Tipo del documento: Article País de afiliación: Países Bajos
Texto completo
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Imprimir
XML
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Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Lisofosfolípidos / Linfocitos / Cardiolipinas / Síndrome de Barth Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: J Inherit Metab Dis Año: 2022 Tipo del documento: Article País de afiliación: Países Bajos