𝔖 Bobbio Scriptorium
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Reversible deafness caused by biotinidase deficiency

✍ Scribed by Rachel Straussberg; Esther Saiag; Liora Harel; Stanley H. Korman; Jacob Amir

Book ID
117590780
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
40 KB
Volume
23
Category
Article
ISSN
0887-8994

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πŸ“œ SIMILAR VOLUMES

Mutations in BTD causing biotinidase def
Mutations in BTD causing biotinidase deficiency
✍ Jeanne Hymes; Christine M. Stanley; Barry Wolf πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 289 KB

Communicated by Linda Tyfield Biotinidase (BTD) is the only enzyme that can cleave biocytin, a product of the proteolytic digestion of holocarboxylases. Profound BTD deficiency (less than 10% mean normal activity in serum) is an autosomal recessive disorder that can result in neurological and cutane