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
✦ LIBER ✦
Novel mutations cause biotinidase deficiency in Turkish children
✍ Scribed by R. J. Pomponio; T. Coskun; M. Demirkol; A. Tokatli; I. Ozalp; G. Hüner; T. Baykal; B. Wolf
- Book ID
- 110226336
- Publisher
- Springer
- Year
- 2000
- Tongue
- English
- Weight
- 70 KB
- Volume
- 23
- Category
- Article
- ISSN
- 0141-8955
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