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

por Mohite, Kaustubh, Nair, Karthik Vijay, Sapare, Anilkumar, Bhat, Venkatraman, Shukla, Anju, Kekatpure, Minal, Patil, Siddaramappa J.
Publicado 2022