EC Number   |
Application |
Reference |
|---|
   3.5.1.12 | analysis |
identification of the site of carboxylation of the biotinyl prosthetic group of several biotin enzymes |
171918 |
| 3.5.1.12 | diagnostics |
BTD is a biomarker for the hepatic glycogen storage disease, overview |
712652 |
| 3.5.1.12 | diagnostics |
BTD is a potential serological biomarker for the detection of breast cancer to use with plasma |
711589 |
| 3.5.1.12 | diagnostics |
loss of overall biotinidase expression is a marker for papillary thyroid cancer aggressiveness acting as a predictor of disease progression and prognosis |
735056 |
| 3.5.1.12 | medicine |
naturally occuring missense mutations result in biotinidase deficiency, an autosomal recessively inherited disorder in which affected individuals have multiple carboxylase deficiency due to secondary deficiency of free biotin |
656803 |
| 3.5.1.12 | medicine |
plasma biotinidase activity assay for diagnosis and screen newborn infants for biotinidase deficiency, treatment of inborn metabolism errors with large doses of biotin |
171919, 171920, 171921, 171922, 171923, 171924, 171925, 171927, 171930, 171935, 171936 |
| 3.5.1.12 | medicine |
serum biotinidase is a sensitive and specific biochemical marker of hepatic dysfunction |
687001 |
| 3.5.1.12 | medicine |
thirteen novel mutations in children with biotinidase deficiency. Biotinidase deficiency is a defect in the recycling of the vitamin biotin. Biotin supplementation can markedly improve the neurological and cutaneous symptoms of affected children and prevents symptoms in children identified by newborn screening or treated since birth |
668880 |
