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Curtis Coughlin II
Curtis Coughlin II
Associate Professor of Pediatrics, University of Colorado School of Medicine
Verified email at childrenscolorado.org
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Cited by
Cited by
Year
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5
PR Baker, MW Friederich, MA Swanson, T Shaikh, K Bhattacharya, ...
Brain 137 (2), 366-379, 2014
2312014
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1
HC Yu, JL Sloan, G Scharer, A Brebner, AM Quintana, NP Achilly, I Manoli, ...
The American Journal of Human Genetics 93 (3), 506-514, 2013
1432013
Pyridoxine-dependent epilepsy: an expanding clinical spectrum
CDM van Karnebeek, SA Tiebout, J Niermeijer, BT Poll-The, A Ghani, ...
Pediatric Neurology 59, 6-12, 2016
1412016
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials
CDM van Karnebeek, H Hartmann, S Jaggumantri, LA Bok, B Cheng, ...
Molecular genetics and metabolism 107 (3), 335-344, 2012
1152012
Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: neurodevelopmental outcome
CR Coughlin II, CDM van Karnebeek, W Al-Hertani, AY Shuen, ...
Molecular Genetics and Metabolism 116 (1-2), 35-43, 2015
1112015
Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns
CR Coughlin, GH Scharer, TH Shaikh
Genome medicine 4, 1-12, 2012
952012
Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia
MA Swanson, CR Coughlin Jr, GH Scharer, HJ Szerlong, KJ Bjoraker, ...
Annals of neurology 78 (4), 606-618, 2015
902015
Neurodevelopmental outcome and treatment efficacy of benzoate and dextromethorphan in siblings with attenuated nonketotic hyperglycinemia
KJ Bjoraker, MA Swanson, CR Coughlin II, J Christodoulou, ES Tan, ...
The Journal of pediatrics 170, 234-239, 2016
852016
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT
CR Coughlin, MA Swanson, K Kronquist, C Acquaviva, T Hutchin, ...
Genetics in Medicine 19 (1), 104-111, 2017
842017
Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I …
MW Friederich, AJ Erdogan, CR Coughlin, MT Elos, H Jiang, ...
Human molecular genetics 26 (4), 702-716, 2017
822017
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder
CR Coughlin, GH Scharer, MW Friederich, HC Yu, EA Geiger, ...
Journal of medical genetics 52 (8), 532-540, 2015
812015
Clinical and biochemical characterization of four patients with mutations in ECHS1
S Ferdinandusse, MW Friederich, A Burlina, JPN Ruiter, CR Coughlin, ...
Orphanet journal of rare diseases 10, 1-15, 2015
802015
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy
CR Coughlin, MA Swanson, E Spector, NJL Meeks, KE Kronquist, ...
Journal of inherited metabolic disease 42 (2), 353-361, 2019
742019
Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency
CR Coughlin, LA Tseng, JE Abdenur, C Ashmore, F Boemer, LA Bok, ...
Journal of inherited metabolic disease 44 (1), 178-192, 2021
702021
Penicillamine therapy for pediatric cystinuria: experience from a cohort of American children
RJ DeBerardinis, CR Coughlin II, P Kaplan
The Journal of urology 180 (6), 2620-2623, 2008
652008
Lysine-restricted diet as adjunct therapy for pyridoxine-dependent epilepsy: the PDE consortium consensus recommendations
CDM van Karnebeek, S Stockler-Ipsiroglu, S Jaggumantri, B Assmann, ...
JIMD Reports, Volume 15, 47-57, 2015
632015
Evidence for a recurrent microdeletion at chromosome 16p11. 2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease
MG Sampson, CR Coughlin, P Kaplan, LK Conlin, KEC Meyers, ...
American Journal of Medical Genetics Part A 152 (10), 2618-2622, 2010
632010
Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing
KC Chatfield, CR Coughlin II, MW Friederich, RC Gallagher, ...
Mitochondrion 21, 1-10, 2015
592015
Impact of diagnosis and therapy on cognitive function in urea cycle disorders
R Posset, AL Gropman, SCS Nagamani, LC Burrage, JK Bedoyan, ...
Annals of neurology 86 (1), 116-128, 2019
562019
Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency
LC Burrage, Q Sun, SH Elsea, MM Jiang, SCS Nagamani, AE Frankel, ...
Human molecular genetics 24 (22), 6417-6427, 2015
542015
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