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Transcobalamin receptor defect: Identification of two new cases through positive newborn screening for propionic/methylmalonic aciduria and long‐term outcome |
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| Authors: | Fady Hannah‐Shmouni Vivian Cruz Andreas Schulze Saadet Mercimek‐Andrews |
| Affiliation: | 1. Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada;2. Genetics and Genome Biology Research Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada |
| Abstract: | |
| Keywords: | CD320 cobalamin transcobalamin receptor defect vitamin B12 treatment |