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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...

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Detalles Bibliográficos
Autores principales: Badour, Maysaa, Hammed, Ali, Baqla, Sameer, Amer, Fatema
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
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