Article
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).
Molecular genetics and metabolism - 1 Nov 2015
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
Abstract excerpt
Untreated profound biotinidase deficiency results in a wide range of clinical features, including optic atrophy, cutaneous abnormalities, hearing loss and developmental delay. Ontario, Canada incorporated this treatable deficiency in newborn screening over the past 8years. This study elucidates the molecular, biochemical, and clinical findings from the pilot project. Information from initial screens, serum...
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