Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007–2014)

Autor: Gannavarapu, Srinitya, Prasad, Chitra, DiRaimo, Jennifer, Napier, Melanie, Goobie, Sharan, Potter, Murray, Chakraborty, Pranesh, Karaceper, Maria, Munoz, Tatiana, Schulze, Andreas, MacKenzie, Jennifer, Li, Lihua, Geraghty, Michael T., Al-Dirbashi, Osama Y., Rupar, C. Anthony
Zdroj: In Molecular Genetics and Metabolism November 2015 116(3):146-151
Databáze: ScienceDirect