Curtis Coughlin II
Curtis Coughlin II
Associate Professor of Pediatrics, University of Colorado School of Medicine
Verified email at
Cited by
Cited by
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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