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,...

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Detalles Bibliográficos
Autores principales: Canda, Ebru, Kalkan Uçar, Sema, Çoker, Mahmut
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2020
Materias:
Review
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

Internet

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

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