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

Author:

Gannavarapu Srinitya,Prasad Chitra,DiRaimo Jennifer,Napier Melanie,Goobie Sharan,Potter Murray,Chakraborty Pranesh,Karaceper MariaORCID,Munoz Tatiana,Schulze AndreasORCID,MacKenzie Jennifer,Li Lihua,Geraghty Michael T.,Al-Dirbashi Osama Y.,Rupar C. Anthony

Funder

Children's Foundation

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference37 articles.

1. Multiple Carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment;Barry Wolf;Pediatrics,1981

2. Biotinidase deficiency: “if you have to have an inherited metabolic disease, this is the one to have”;Wolf;Genet. Med.,2012

3. Overview of the Census;Canada,2011

4. NSO: Newborn Screening Public Annual Report. 2012: p. 26.

5. Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency;Wolf;Clin. Chim. Acta,1983

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