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Recovery of enzyme activity in biotinidase deficient individuals during early childhood.
Forny, Patrick; Wicht, Andrea; Rüfenacht, Véronique; Cremonesi, Alessio; Häberle, Johannes.
Afiliación
  • Forny P; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
  • Wicht A; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
  • Rüfenacht V; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
  • Cremonesi A; Division of Clinical Biochemistry and Swiss Newborn Screening, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
  • Häberle J; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
J Inherit Metab Dis ; 45(3): 605-620, 2022 05.
Article en En | MEDLINE | ID: mdl-35195902
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Deficiencia de Biotinidasa Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child, preschool / Humans / Newborn Idioma: En Revista: J Inherit Metab Dis Año: 2022 Tipo del documento: Article País de afiliación: Suiza
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Deficiencia de Biotinidasa Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child, preschool / Humans / Newborn Idioma: En Revista: J Inherit Metab Dis Año: 2022 Tipo del documento: Article País de afiliación: Suiza