Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss
Author:
Funder
Safra Research Fund
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Reference28 articles.
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2. Biotinidase deficiency: if you have to have an inherited metabolic disease, this is the one to have;Wolf;Genet. Medicine,2012
3. Biotinidase Deficiency;Wolf,2012
4. Screening for biotinidase deficiency in newborns: worldwide experience;Wolf;Pediatr.,1990
5. Why perform newborn screening for profound and partial biotinidase deficiency?;Wolf;Mol. Genet. Metab.,2015
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