Biotinidase deficiency: Initial clinical features and rapid diagnosis
β Scribed by Dr. Barry Wolf; Gregory S. Heard; Karen A. Weissbecker; Julie R. Secor McVoy; Robert E. Grier; Robert T. Leshner
- Publisher
- John Wiley and Sons
- Year
- 1985
- Tongue
- English
- Weight
- 458 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0364-5134
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π SIMILAR VOLUMES
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 prevent symptoms in children identified by newborn screening or treated since birth. We have determined thirteen nov
Biotinidase deficiency is characterized by neurological and cutaneous abnormalities that can be prevented or ameliorated by oral biotin therapy. A child with biotinidase deficiency went undiagnosed for a long period and has irreversible neurological deficits despite biotin treatment. This child is h
## Abstract ## Aims A prospective analysis of 92 patients with genuine stress incontinence was performed to identify the clinical and urodynamic features of intrinsic sphincter deficiency (ISD). ## Methods We divided the patients into two categories: 50 patients affected by pure ISD as they had