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Brain & Development|April 15, 2014
Severe scoliosis in a patient with severe methylenetetrahydrofolate reductase deficiencyTatiana Munoz, Jinesh Patel, Ramses Badilla-Porras, et al.
Canadian Family Physician Medecin De Famille Canadien|April 5, 2003
Improving on-line skills and knowledge. A randomized trial of teaching rural physicians to use on-line medical informationJonathan Kronick, Catherine Blake, Eeva Munoz, et al.
American Journal of Medical Genetics. Part A|May 12, 2005
Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuriaVenu T Tadiboyina, Anthony Rupar, Paul Atkison, et al.
Molecular Genetics and Metabolism|October 1, 2014
The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in CanadaAnne Roscher, Jaina Patel, Stacy Hewson, et al.
Molecular Genetics and Metabolism|May 27, 2003
Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trapS Harvey Mudd, Nancy Braverman, Martin Pomper, et al.
Cell Metabolism|September 7, 2010
Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex IJessica Nouws, Leo Nijtmans, Sander M Houten, et al.
Orphanet Journal of Rare Diseases|January 16, 2020
Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a reviewMichael Pugliese, Kylie Tingley, Andrea Chow, et al.
Pediatrics|July 16, 2021
Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and PhenylketonuriaMichael Pugliese, Kylie Tingley, Andrea Chow, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2017
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic testAnath C Lionel, Gregory Costain, Nasim Monfared, et al.
NPJ Genomic Medicine|June 2, 2017
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric MedicineDimitri J Stavropoulos, Daniele Merico, Rebekah Jobling, et al.
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