Biotinidase deficiency is a rare, potentially treatable cause of peripheral neuropathy with or without optic neuropathy in adults
Author:
Funder
Research to Prevent Blindness
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology
Reference15 articles.
1. Disorders of biotin metabolism;Wolf,2001
2. Biotinidase deficiency;Wolf,2018
3. Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening;Wolf;Genet Med.,2016
4. Worldwide survey of neonatal screening for biotinidase deficiency;Wolf;J. Inherit. Metab. Dis.,1991
5. Neonatal screening for biotinidase deficiency: an update;Wolf;J. Inherit. Metab. Dis.,1986
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1. Biotinidase deficiency: What have we learned in forty years?;Molecular Genetics and Metabolism;2023-04
2. Strategy for genetic analysis in hereditary neuropathy;Revue Neurologique;2023-01
3. Novel biallelic variants expand the SLC5A6-related phenotypic spectrum;European Journal of Human Genetics;2022-01-11
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