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Urinary 2,8-dihydroxyadenine excretion in patients with adenine phosphoribosyltransferase deficiency, carriers and healthy control subjects.
Runolfsdottir, Hrafnhildur L; Palsson, Runolfur; Thorsteinsdottir, Unnur A; Indridason, Olafur S; Agustsdottir, Inger M Sch; Oddsdottir, G Steinunn; Thorsteinsdottir, Margret; Edvardsson, Vidar O.
Afiliación
  • Runolfsdottir HL; Internal Medicine Services, Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
  • Palsson R; Internal Medicine Services, Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland; Division of Nephrology, Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland. Ele
  • Thorsteinsdottir UA; Faculty of Pharmaceutical Sciences, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
  • Indridason OS; Internal Medicine Services, Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland; Division of Nephrology, Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland.
  • Agustsdottir IMS; Children's Medical Center, Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland.
  • Oddsdottir GS; Department of Clinical Biochemistry, Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland.
  • Thorsteinsdottir M; Faculty of Pharmaceutical Sciences, School of Health Sciences, University of Iceland, Reykjavik, Iceland; ArcticMass, Reykjavik, Iceland.
  • Edvardsson VO; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland; Children's Medical Center, Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland. Electronic address: vidare@landspitali.is.
Mol Genet Metab ; 128(1-2): 144-150, 2019.
Article en En | MEDLINE | ID: mdl-31378568
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Adenina / Adenina Fosforribosiltransferasa / Urolitiasis / Errores Innatos del Metabolismo Tipo de estudio: Observational_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2019 Tipo del documento: Article País de afiliación: Islandia
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Adenina / Adenina Fosforribosiltransferasa / Urolitiasis / Errores Innatos del Metabolismo Tipo de estudio: Observational_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2019 Tipo del documento: Article País de afiliación: Islandia