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Biotinidase deficiency: What have we learned in forty years?
Tankeu, Aurel T; Van Winckel, Geraldine; Elmers, Jolanda; Jaccard, Evrim; Superti-Furga, Andrea; Wolf, Barry; Tran, Christel.
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  • Tankeu AT; Division of Genetic Medicine, University of Lausanne and University Hospital of Lausanne, Lausanne, Switzerland.
  • Van Winckel G; Genetic Medicine Division, Geneva University Hospitals, Geneva, Switzerland.
  • Elmers J; Medical Library, University of Lausanne and University Hospital of Lausanne, Lausanne, Switzerland.
  • Jaccard E; Department of Medicine, University of Lausanne and University Hospital of Lausanne, Lausanne, Switzerland.
  • Superti-Furga A; Division of Genetic Medicine, University of Lausanne and University Hospital of Lausanne, Lausanne, Switzerland.
  • Wolf B; Division of Genetics, Birth Defects and Metabolism, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, United States of America; Department of Medical Genetics, Henry Ford Hospital, Detroit, MI, United States of America.
  • Tran C; Division of Genetic Medicine, University of Lausanne and University Hospital of Lausanne, Lausanne, Switzerland. Electronic address: christel.tran@chuv.ch.
Mol Genet Metab ; 138(4): 107560, 2023 04.
Article en En | MEDLINE | ID: mdl-37027963
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Deficiencia de Biotinidasa Tipo de estudio: Diagnostic_studies Límite: Adult / Child, preschool / Humans / Infant / Newborn Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2023 Tipo del documento: Article País de afiliación: Suiza
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Deficiencia de Biotinidasa Tipo de estudio: Diagnostic_studies Límite: Adult / Child, preschool / Humans / Infant / Newborn Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2023 Tipo del documento: Article País de afiliación: Suiza