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Tetraparesis as an initial manifestation of biotinidase deficiency: a case report
Biotinidase deficiency (BTD) is an autosomal recessive disorder and causes the deficiency of four biotin-containing carboxylases. The prevalence is estimated at 1 in 60 000 births. BTD is associated with a wide spectrum of clinical manifestations, including abnormalities of the neurological, dermato...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Lippincott Williams & Wilkins
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10205373/ https://www.ncbi.nlm.nih.gov/pubmed/37229044 http://dx.doi.org/10.1097/MS9.0000000000000099 |