Late Onset Subacute Profound Biotinidase Deficiency Caused by a Novel Homozygous Variant c.466-3T>G in the BTD Gene

Biotinidase deficiency (BD) is an autosomal recessive disorder caused by bi-allelic mutation in the BTD gene. Clinical manifestations in BD mainly depends on residual biotinidase enzyme activity, although there are some exceptions. Broadly BD disorders are classified as profound BD and partial BD. F...

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Detalles Bibliográficos
Autores principales: Mohite, Kaustubh, Nair, Karthik Vijay, Sapare, Anilkumar, Bhat, Venkatraman, Shukla, Anju, Kekatpure, Minal, Patil, Siddaramappa J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer India 2022
Materias:
Clinical Brief
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8759430/
https://www.ncbi.nlm.nih.gov/pubmed/35032020
http://dx.doi.org/10.1007/s12098-021-04000-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8759430/
https://www.ncbi.nlm.nih.gov/pubmed/35032020
http://dx.doi.org/10.1007/s12098-021-04000-3

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