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Curtis Coughlin II

Curtis Coughlin II

University of Colorado Anschutz Medical Campus - Aurora / United States
Medical and Health Sciences / Pediatrics and Child Health
AD Scientific Index ID: 4684837
University of Colorado School of Medicine
person_outline Curtis Coughlin II's MOST POPULAR ARTICLES
1-) Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5 Brain 137 (2), 366-379, 2014
2-) Pyridoxine-dependent epilepsy: an expanding clinical spectrum Pediatric Neurology 59, 6-12, 2016
3-) An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1 The American Journal of Human Genetics 93 (3), 506-514, 2013
4-) Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency Journal of inherited metabolic disease 44 (1), 178-192, 2021
5-) Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: neurodevelopmental outcome Molecular Genetics and Metabolism 116 (1-2), 35-43, 2015