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

Molecular Genetics and Metabolism - Tập 116 - Trang 146-151 - 2015
Srinitya Gannavarapu1, Chitra Prasad1, Jennifer DiRaimo1, Melanie Napier1, Sharan Goobie1, Murray Potter2, Pranesh Chakraborty3, Maria Karaceper3, Tatiana Munoz4, Andreas Schulze4,5, Jennifer MacKenzie6, Lihua Li7, Michael T. Geraghty3,8, Osama Y. Al-Dirbashi3,8, C. Anthony Rupar1,9
1Department of Pediatrics London Health Sciences Centre and Western University, London ON, Canada
2Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada
3Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa ON, Canada
4Divison of Clinical and Metabolic Genetics, Department of Pediatrics, the Hospital for Sick Children and University of Toronto, ON, Canada
5Genetics and Genome Biology, Peter Gilgan Centre for Research and Learning, the Hospital for Sick Children, Toronto ON, Canada
6Department of Pediatrics, Queen's University, Kingston ON, Canada
7Division of Nephrology, Department of Medicine, Western University, London, ON, Canada
8Division of Metabolics, Department Pediatrics, University of Ottawa, ON, Canada
9Department of Pathology and Laboratory Medicine Western University, London, ON, Canada

Tài liệu tham khảo

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