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Biotinidase deficiency: What have we learned in forty years?

  • Published:2023-04 Issue:4 Volume:138 Page:107560
  • ISSN:1096-7192
  • Container-title:Molecular Genetics and Metabolism
  • language:en
  • Short-container-title:Molecular Genetics and Metabolism

Author:

Tankeu Aurel T.,Van Winckel Geraldine,Elmers Jolanda,Jaccard Evrim,Superti-Furga Andrea,Wolf Barry,Tran Christel

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference57 articles.

1. Deficient biotinidase activity in late-onset multiple carboxylase deficiency;Wolf;N. Engl. J. Med.,1983

2. Biotinidase deficiency: a novel vitamin recycling defect;Wolf;J. Inherit. Metab. Dis.,1985

3. Biotinidase deficiency: the possible role of biotinidase in the processing of dietary protein-bound biotin;Wolf;J. Inherit. Metab. Dis.,1984

4. Clinical, biochemical and genotypical characteristics in biotinidase deficiency;Akgun;J. Pediatr. Endocrinol. Metab.,2021

5. Technical standards and guidelines for the diagnosis of biotinidase deficiency;Cowan;Genet. Med.,2010
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