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Biotinidase Deficiency: Prevalence, Impact And Management Strategies
Biotinidase deficiency is an autosomal recessive inherited neurocutaneous disorder. Clinically untreated patients with BD can present with variable neurological and dermatological signs, such as seizures, hypotonia, feeding problems, developmental delay, hearing loss, optic atrophy ataxia, alopecia,...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Dove
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7211084/ https://www.ncbi.nlm.nih.gov/pubmed/32440248 http://dx.doi.org/10.2147/PHMT.S198656 |