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Publications
Publications Resulting from 5101:
Ah Mew N, Krivitzky L, McCarter R, Batshaw M, Tuchman M. Clinical outcomes of neonatal onset proximal versus distal urea cycle disorders do not differ. J Pediatr. 2013 Feb;162(2):324-329.e321. PMID: 22901741, PMCID:
PMC4440324
Batshaw ML, Tuchman M, Summar ML, Seminara J. A longitudinal study of urea cycle disorders. Mol Genet Metab. 2014 Sep-Oct;113(1-2):127-130. PMID: 25135652, PMCID:
PMC4178008
Burrage LC, Jain M, Gandolfo L, Lee BH, Nagamani SCS. Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders. Mol Genet Metab. 2014 SepOct;113(0):131–135. PMID: 25042691, PMCID:
PMC4177960
Burrage LC, Sun Q, Elsea SH, Jiang M, Nagamani SCS, Frankel AE, Stone E, Alters SE, Johnson DE, Rowlinson SW, Georgiou G, Members of the Urea Cycle Disorders Consortium, Lee BH. Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency. Hum Mol Genet. 2015;24(22):6417-6427. PMID: 26358771, PMCID:
PMC5007608
Gallagher RC, Lam C, Wong D, Cederbaum S, Sokol RJ. Significant hepatic involvement in patients with ornithine transcarbamylase deficiency. J Pediatr. 2014 Apr;164(4):720-725.e726. PMID: 24485820, PMCID:
PMC4070427
Jain-Ghai S, Nagamani SCS, Blaser S, Siriwardena K, Feigenbaum A. Arginase I Deficiency: Severe infantile presentation with hyperammonemia: more common than reported? Molecular Genetics and Metabolism. 2011;104:107–111. PMID: 21802329. PMCID:
PMC3171515
Kolker S, Dobbelaere D, Haberle J, Burgard P, Gleich F, Summar ML, Hannigan S, Parker S, Chakrapani A, Baumgartner MR, and on behalf of the E-IMD Consortium. Networking across borders for individuals with organic acidurias and urea cycle disorders: The E-IMD Consortium. JIMD Reports. 2015;22:29-38. PMID: 25701269, PMCID:
PMC4486274
Krivitzky LS, Babikian T, Lee HS, Thomas NH, Burke-Paull KL, Batshaw ML. Intellectual, adaptive, and behavioral functioning in children with urea cycle disorders. Pediatric Research. 2009 Jul;66(1):96-101. PMID: 19287347, PMCID:
PMC2746951
Krivitzky LS, Walsh KS, Fisher EL, Berl MM. Executive functioning profiles from the BRIEF across pediatric medical disorders: Age and diagnosis factors. Child Neuropsychol. 2016;22(7):870–888. PMID: 26143938, PMCID:
PMC4703575
Mc Guire PJ, Lee HS, Members of the UCDC, Summar ML. Infectious precipitants of acute hyperammonemia are associated with indicators of increased morbidity in patients with Urea Cycle Disorders. J Pediatr. 2013 Dec;163(6):1705–1710.e1. PMID: 24084106, PMCID:
PMC3958925
Morgan TM, Schlegel C, Edwards KM, Welch-Burke T, Zhu Y, Sparks R, Summar ML, the Urea Cycle Disorders Consortium. Vaccines are not associated with metabolic events in children with urea cycle disorders. Pediatrics. 2011 May;127(5): e1147–e1153; PIMD: 21482610, PMCID:
PMC
3387867
Patrick TB, Richesson R, Andrews JE, Folk LC. SNOMED CT coding variation and grouping for “other findings” in a longitudinal study on urea cycle disorders. AMIA Annu Symp Proc. 2008 Nov;6:11-5. PIMD: 18998949, PMCID:
PMC2656069
Posset R, Garbade SF, Boy N, Burlina AB, Dionisi-Vici C, Dobbelaere D, Garcia-Cazorla A, de Lonlay P, Teles EL, Vara R, Ah Mew N, Batshaw ML, Baumgartner MR, McCandless SE, Seminara J, Summar ML, Hoffmann GF, Kölker S, Burgard P; on behalf of the UCDC and the E-IMD consortium. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders – a successful strategy for clinical research of rare diseases. J Inherit Metab Dis. 2018 Jul 4. PMID: 29974348
Richesson RL, Lee HS, Cuthbertson D, Lloyd J, Young K, Krischer JP. An automated communication system in a contact registry for persons with rare diseases: Scalable tools for identifying and recruiting clinical research participants. Contemp Clin Trials. 2009 Jan;30(1):55-62. PIMD: 18804556, PMCID:
PMC2640948
Seminara J, Tuchman M, Krivitzky L, Krischer J, Lee HS, Le Mons C, Baumgartner M, Cederbaum S, Diaz GA, Feigenbaum A, Gallagher RC, Harding CO, Kerr DS, Lanpher B, Lee B, Lichter-Konecki U, McCandless SE, Merritt JL, Oster-Granite ML, Seashore MR, Stricker T, Summar M, Waisbren S, Yudkoff M, Batshaw ML. Establishing a consortium for the study of rare diseases: the Urea Cycle Disorders Consortium. Mol Genet Metab. 2010;100 Suppl 1:S97-S105. PMID: 20188616, PMCID:
PMC2858794
Shapiro E, Bernstein J, Adams HR, Barbier AJ, Buracchio T, Como P, Delaney KA, Eichler F, Goldsmith JC, Hogan M, Kovacs S, Mink JW, Odenkirchen J, Parisi MA, Skrinar A, Waisbren SE, Mulberg AE. Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions. Mol Genet Metab. 2016 Jun;118(2):65-69. PMID: 27132782, PMCID:
PMC4895194
Summar ML, Koelker S, Freedenberg D, Le Mons C, Haberle J, Lee HS, Kirmse B, the European Registry and Network for Intoxication Type Metabolic Diseases (E-IMD), Members of the Urea Cycle Disorders Consortium (UCDC). The incidence of urea cycle disorders. Mol Genet Metab. 2013 Sep-Oct;110(1-2):179-180. PMID: 23972786, PMCID:
PMC4364413
Tuchman M, Lee B, Lichter-Konecki U, Summar ML, Yudkoff M, Cederbaum SD, Kerr DS, Diaz GA, Seashore MR, Lee HS, Krischer JP, Batshaw ML, the Urea Cycle Disorders Consortium of the Rare Diseases Clinical Research Network. Cross-sectional multi-center study of patients with urea cycle disorders in the United States. Mol Genet Metab. 2008;94:397-402. PMID:18562231, PMCID:
PMC2640937
Waisbren SE, Cuthbertson D, Burgard P, Holbert A, McCarter R, Cederbaum S, Members of the Urea Cycle Disorders Consortium.
Biochemical markers and neuropsychological functioning in distal urea cycle disorders.
J Inherit Metab Dis. 2018 Jul;41(4):657-667. PMID: 29423830, PMCID:
PMC6041144
Waisbren SE, Gropman AL, Members of the Urea Cycle Disorders Consortium (UCDC), Batshaw ML.
Improving long term outcomes in urea cycle disorders
-
report from the Urea Cycle Disorders Consortium.
J Inherit Metab Dis. 2016 Jul;39(4):573-84. PMID: 27215558, PMCID:
PMC4921309
Waisbren SE, He J, McCarter R. Assessing psychological functioning in metabolic disorders:Validation of the adaptive behavior assessment system, second edition (ABAS-ii), and the behavior rating inventory of executive function (BRIEF) for identification of individuals at risk. JIMD Reports. 2015;21:35–43. PMID: 25712381, PMCID:
PMC4470946
Wilson JM, Shchelochkov OA, Gallagher RC, Batshaw ML. Hepatocellular carcinoma in a research subject with ornithine transcarbamylase deficiency. Mol Genet Metab. 2012 Feb;105(2):263-265. PMID: 22129577, PMCID:
PMC3273986
Publications Resulting from 5102:
Nagamani SCS, Shchelochkov OA, Mullins MA, Carter S, Lanpher BC, Sun Q, Kleppe S, Erez A, O'Brian Smith E, Marini JC; Members of the Urea Cycle Disorders Consortium, Lee B. A Randomized Controlled Trial to Evaluate the Effects of High-Dose Versus Low-Dose of Arginine Therapy on Liver Function Tests in Argininosuccinic Aciduria
.
Mol Genet Metab. 2012 Nov;107(3):315-21. Epub 2012 Sep 17. PMID: 23040521. PMCID:
PMC3483446
Publications Resulting from 5104 and 5107:
*Gropman AL. Brain imaging in urea cycle disorders. Mol Genet Metab. 2010;100 Suppl 1:S20-30. PMID: 20207564, PMCID:
PMC3258295
Gropman AL. Expanding the diagnostic and research toolbox for inborn errors of metabolism: the role of magnetic resonance spectroscopy. Mol Genet Metab. 2005 Sep-Oct;86(1-2):2-9. PMID: 16276565
Gropman AL. Patterns of brain injury in inborn errors of metabolism. Semin Pediatr Neurol. 2012 Dec;19(4):203-210. PMID: 23245553, PMCID:
PMC3758694
Gropman AL, Batshaw ML. Cognitive outcome in urea cycle disorders. Mol Genet Metab. 2004 Apr;81 Suppl 1:S58-62. PMID: 15050975,
Full Text
(with PubMed access)
*Gropman AL, Fricke ST, Seltzer RR, Hailu A, Adeyemo A, Sawyer A, VanMeter J, Gaillard WD, McCarter R, Tuchman M, Batshaw M. 1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency. Mol Genet Metab. 2008 Sep-Oct;95(1-2):21-30. PMID: 18662894, PMCID:
PMC3724938
Gropman AL, Gertz B, Shattuck K, Kahn IL, Seltzer R, Krivitsky L, VanMeter J. Diffusion tensor imaging detects areas of abnormal white matter microstructure in patients with partial ornithine transcarbamylase deficiency. AJNR Am J Neuroradiol. 2010 Oct;31(9):1719-1723. PMID: 20488904, PMCID:
PMC3758695
Gropman AL, Prust M, Breeden A, Fricke S, VanMeter J. Urea cycle defects and hyperammonemia: effects on functional imaging. Metab Brain Dis. 2013 Jun;28(2):269-275. PMID: 23149878, PMCID:
PMC3594356
*Gropman AL, Rigas A. Neurometabolic disorders: urea-cycle disorder, outcomes, development and treatment. Pediatric Health. 2008;2(6):701-713.
Full Text
*Gropman AL, Seltzer RR, Yudkoff M, Sawyer A, VanMeter J, Fricke ST. 1H MRS allows brain phenotype differentiation in sisters with late onset ornithine transcarbamylase deficiency (OTCD) and discordant clinical presentations. Mol Genet Metab. 2008; 94(1):52-60. PMID: 18262815, PMCID:
PMC2486377
Gropman AL, Shattuck K, Prust MJ, Seltzer RR, Breeden AL, Hailu A, Rigas A, Hussain R,VanMeter J. Altered neural activation in ornithine transcarbamylase deficiency during executive cognition: an fMRI study. Hum Brain Mapp. 2013 Apr;34(4):753-761. PMID: 22110002, PMCID:
PMC3338900
*Gropman AL, Summar ML, Leonard JV. Neurological implications of urea cycle disorders. J Inherit Metab Dis. 2007 Nov;30(6):865-879. PMID: 18038189, PMCID:
PMC3758693
Oldham MS, VanMeter JW, Shattuck KF, Cederbaum SD, Gropman AL. Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts. Pediatr Neurol. 2010 Jan;42(1):49-52. PMID: 20004862, PMCID:
PMC3758690
Pacheco-Colón Ileana, Fricke Stanley and Gropman Andrea. “Role of brain imaging for demonstrating ammonia-induced changes”. In Current Approach to Hyperammonemia. Johannes Häberle (ed). eBook, Future Medicine. 2014.
Pacheco-Colón I, Washington SD, Sprouse C, Helman G, Gropman AL, VanMeter JW. Reduced functional connectivity of default mode and set-maintenance networks in ornithine transcarbamylase deficiency. PLoS ONE. 2015;10(6):e0129595. PMID: 26067829, PMCID:
PMC4466251
Prust MJ, Gropman AL, Hauser N. New frontiers in neuroimaging applications to inborn errors of metabolism. Mol Genet Metab. 2011 Nov;104(3):195-205. PMID: 21778100, PMCID:
PMC3758691
Sprouse C, King J, Helman G, Pacheco-Colón I, Shattuck K, Breeden A, Seltzer R, VanMeter JW, Gropman AL. Investigating neurological deficits in carriers and affected patients with ornithine transcarbamylase deficiency. Mol Genet Metab. 2014 Sep-Oct;113(1-2):136-141. PMID: 24881970, PMCID:
PMC4458385
Publications Resulting from 5105:
Ah Mew N, McCarter R, Daikhin Y, Lichter-Konecki U, Nissim I, Yudkoff M, Tuchman M. Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with N-carbamyl-L-glutamate. J Pediatr. 2014 Aug;165(2):401-403.e3. PMID: 24880889, PMCID:
PMC4111993
.
*Ah Mew N, McCarter R, Daikhin Y, Nissim I, Yudkoff M, Tuchman M. N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine levels in patients with propionic acidemia. Pediatrics. 2010 Jul;126(1):e208-14. PIMD: 20566609, PMCID:
PMC3297024
*Ah Mew N, Payan I, Daikhin Y, Nissim I, Nissim I, Tuchman M, Yudkoff. Effects of a single dose of Ncarbamylglutamate on the rate of ureagenesis. Mol Genet Metab. 2009 Dec;98(4):325-30. PMID: 19660971, PMCID:
PMC2784258
Ah Mew N, Yudkoff M, Tuchman M. Stable isotopes in the diagnosis and treatment of inherited hyperammonemia. J Pediatr Biochem. 2014 Jan 1;4(1):57-63. PMID: 24634704, PMCID:
PMC3952002
Caldovic L, Morizono H, Daikhin Y, Nissim I, McCarter RJ, Yudkoff M, Tuchman M. Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate. J Pediatr. 2004 Oct;145(4):552-554. PMID: 15480384,
Full Text
(with PubMed access)
Heibel SK, Ah Mew N, Caldovic L, Daikhin Y, Yudkoff M, Tuchman M. N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy. Hum Mutat. 2011 Oct;32(10):1153-1160. PMID: 21681857, PMCID:
PMC3976964
Shi D, Zhao G, Ah Mew N, Tuchman M. Precision medicine in rare disease: Mechanisms of disparate effects of N-carbamyl-l-glutamate on mutant CPS1 enzymes. Mol Genet Metab. 2017 Mar;120(3):198–206. PMID: 28007335, PMCID:
PMC5346444
Tuchman M, Caldovic L, Daikhin Y, Horyn O, Nissim I, Korson M, Burton B, Yudkoff M. N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers. Pediatr Res. 2008 Aug;64(2): 213–217. PMID: 18414145, PMCID:
PMC2640836
*Yudkoff M, Ah Mew N, Daikhin Y, Horyn O, Nissim I, Nissim I, Payan I, Tuchman M. Measuring in vivo ureagenesis with stable isotopes. Mol Genet Metab. 2010;100 Suppl 1:S37-41. PMID: 20338795, PMCID:
PMC2858793
Publications Resulting from Trainee Projects:
*Atwal PS, Medina CR, Burrage LC, Sutton VR. Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency. J Hum Genet. 2016 Jul;61(7):669-672. PMID: 26984560, PMCID:
PMC4961564
*Ballantyne LL, Sin YY, St. Amand T, Si J, Goossens S, Haenebalcke L, Haigh JJ, Kyriakopoulou L, Schulze A, Funk CD. Strategies to rescue the consequences of inducible arginase-1 deficiency in mice. PLoS One. 2015 May 4;10(5):e0125967. PMID: 25938595, PMCID:
PMC4418594
*Boyer SW, Barclay LJ, Burrage LC. Inherited metabolic disorders: aspects of chronic nutrition management. Nutr Clin Pract. 2015 Aug;30(4):502–510. PMID: 26079521, PMCID:
PMC4515158
*Brunetti-Pierri N, Erez A, Shchelochkov O, Craigen W, Lee B. Systemic hypertension in two patients with ASL deficiency: a result of nitric oxide deficiency? Mol Genet Metab. 2009 Sep-Oct;98(1-2):195-197. PMID: 19592285, PMCID:
PMC2746757
*Burrage LC, Charng WL, Eldomery MK, Willer JR, Davis EE, Lugtenberg D, Zhu W, Leduc MS, Akdemir ZC, Azamian M, Zapata G, Hernandez PP, Schoots J, de Munnik SA, Roepman R, Pearring JN, Jhangiani S, Katsanis N, Vissers LE, Brunner HG, Beaudet AL, Rosenfeld JA, Muzny DM, Gibbs RA, Eng CM, Xia F, Lalani SR, Lupski JR, Bongers EM, Yang Y. De Novo GMNN mutations cause autosomal-dominant primordial dwarfism associated with meier-gorlin syndrome. Am J Hum Genet. 2015 Dec 3;97(6):904-913. PMID: 26637980, PMCID:
PMC4678788
*Caldovic L, Ah Mew N, Shi D, Morizono H, Yudkoff M, Tuchman M. N-acetylglutamate synthase: structure, function and defects. Mol Genet Metab. 2010;100 Suppl 1:S13-19. PMID: 0303810, PMCID:
PMC2876818
*Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M, Alanay Y, Berry SA, Carey JC, Gibbs RA, Lee BH, Krakow D, Shendure J, Nickerson DA, University of Washington Center for Mendelian Genomics, and Bamshad MJ. Autosomal-dominant multiple pterygium syndrome is caused by mutations in myh3. Am J Hum Genet. 2015 May 7;96(5):841-849. PMID: 25957469, PMCID:
PMC4570285
*Crombez EA, Cederbaum SD. Hyperargininemia due to liver arginase deficiency. Mol Genet Metab. 2005 Mar;84(3):243-251. PMID: 15694174,
Full Text
(with PubMed access)
*Deardorff MA, Gaddipati H, Kaplan P, Sanchez-Lara PA, Sondheimer N, Spinner NB, Hakonarson H, Ficicioglu C, Ganesh J, Markello T, Loechelt B, Zand DJ, Yudkoff M, Lichter-Konecki U. Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases. Mol Genet Metab. 2008 Aug;94(4):498-502. PMID: 18524659, PMCID:
PMC2572572
*Eeds AM, Mortlock D, Wade-Martins R, Summar ML. Assessing the functional characteristics of synonymous and nonsynonymous mutation candidates by use of large DNA constructs. Am J Hum Genet. 2007 Apr;80(4):740-750. PMID: 17357079, PMCID:
PMC1852709
*Erez A, Nagamani SCS, Lee B. Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond. Am J Med Genet C Semin Med Genet. 2011 Feb 15;157(1):45-53. PMID: 21312326, PMCID:
PMC3073162
*Erez A, Nagamani SCS, Shchelochkov OA, Premkumar MH, Campeau PM, Chen Y, Garg HK, Li L, Mian A, Bertin TK, Black JO, Zeng H, Tang Y, Reddy AK, Summar ML, O’Brien WE, Harrison DG, Mitch WE, Marini JC, Aschner JL, Bryan NS, Lee B. Requirement of argininosuccinate lyase for systemic nitric oxide production. Nat Med. 2011 Nov 13;17(12):1619-26). PMID:22081021, PMCID:
PMC3348956
*Erez A, Shchelochkov OA, Plon SE, Scaglia F, Lee B. Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism. Am J Hum Genet. 2011 Apr 8;88(4):402-421. PMID: 21473982, PMCID:
PMC3071916
*Haberle J, Shchelochkov OA, Wang J, Katsonis P, Hall L, Reiss S, Eeds A, Willis A, Yadav M, Summar S, Lichtarge O, Rubio V, Wong LJ, Summar M. Molecular defects in human carbamoyl phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations. Hum Mutat. 2011 Jun;32(6):579-589. PMID: 21120950, PMCID:
PMC4861085
*Heibel SK, Ah Mew N, Caldovic L, Daikhin Y, Yudkoff M, Tuchman M. N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy. Hum Mutat. 2011 Oct;32(10):1153-1160. PMID: 21681857, PMCID:
PMC3976964
*Jain-Ghai S, Nagamani SCS, Blaser S, Siriwardena K, Feigenbaum A. Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported? Mol Genet Metab. 2011 Sep-Oct;104(12):107-111. PMID: 21802329, PMCID:
PMC3171515
*Kleppe S, Mian A, Lee B. Urea Cycle Disorders. Curr Treat Options Neurol. 2003 Jul;5(4):309-319. PMID: 12791198
*Lanpher B, Brunetti-Pierri N, Lee B. Inborn errors of metabolism: the flux from Mendelian to complex diseases. Nat Rev Genet. 2006 Jun;7(6):449-460. PMID: 16708072,
Full Text
(with PubMed access) *Marini JC, Lanpher B, Scaglia F, Carter S, Garlick PJ, Jahoor F, Lee B. Phenylbutyrate reduces plasma leucine concentrations without affecting the flux of leucine. FASEB Journal. 2007;21:A335.
Abstract
*Mian A, McCormack WM, Jr., Mane V, Kleppe S, Ng P, Finegold M, O'Brien WE, Rodgers JR, Beaudet AL, Lee B. Long-term correction of ornithine transcarbamylase deficiency by WPRE-mediated overexpression using a helper-dependent adenovirus. Mol Ther. 2004 Sep;10(3):492-499. PMID: 15336649,
Full Text
*Miller MJ, Burrage LC, Gibson JB, Strenk ME, Lose EJ, Bick DP, Elsea SH, Sutton VR, Sun Q, Graham BH, Craigen WJ, Zhang VW, Wong LJ.
Recurrent ACADVL molecular findings in individuals with a positive
newborn screen for very long chain acyl
-
coA dehydrogenase (VLCAD) deficiency in the United States.
Mol Genet Metab. 2015 Nov;116(3):139-45. PMID:26385305, PMCID:
PMC4790081
*Mokhtarani M, Diaz GA, Rhead W, Lichter-Konecki U, Bartley J, Feigenbaum A, Longo N, Berquist W, Berry SA, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Vockley J, Bart S, Kronn D, Zori R, Cederbaum S, Dorrani N, Merritt JL II, Nagamani SCS, Summar M, Le Mons C, Dickinson K, Coakley DF, Moors TL, Lee B, Scharschmidt BF. Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders. Mol Genet Metab. 2012 Nov;107(3):308-14. PMID: 22958974, PMCID:
PMC3608516
*Nagamani SCS, Campeau PM, Shchelochkov OA, Premkumar MH, Guse K, Brunetti-Pierri N, Chen Y, Sun Q, Tang Y, Palmer D, Reddy AK, Li L, Slesnick TC, Feig DI, Caudle S, Harrison D, Salviati L, Marini JC, Bryan NS, Erez A, Lee B. Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria. Am J Hum Genet. 2012 May 4;90(5):836-846.PMID: 22541557, PMCID:
PMC3376491
*Sandesh C Sreenath Nagamani, Ayelet Erez, Brendan Lee. Argininosuccinate Lyase deficiency. (February 2011): in GeneReviews: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. Seattle (WA): University of Washington, Seattle, 1993-2011 Feb 03. Featured e-book on NCBI Bookshelf,
Full Text
*Nagamani SCS, Lee B, Erez A. Optimizing therapy for argininosuccinic aciduria. Mol Genet Metab. 2012 Sep;107(1-2):10-14. PMID: 22841516, PMCID:
PMC3444682
*Pferdehirt R, Jain M, Blazo MA, Lee B, Burrage LC. Catel-manzke syndrome: further delineation of the phenotype associated with pathogenic variants inTGDS. Molecular Genetics And Metabolism Reports. 2015 Sep 1;4:89-91. PMID: 26366375, PMCID:
PMC4563870
*Scaglia F, Brunetti-Pierri N, Kleppe S, Marini J, Carter S, Garlick P, Jahoor F, O'Brien W, Lee B. Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism. J Nutr. Oct 2004;134(10 Suppl):2775S-2782S; discussion 2796S-2797S. PMID: 15465784,
Full Text
(with PubMed access)
*Scaglia F, Lanpher B, Marini J, Lee B. Role of branched chain amino acids in patients with urea cycle disorders. In: Bachmann C, Haberle J, Leonard JV (eds). Pathophysiology and Management of Hyperammonemia. SPS Publications, 2007: p.65-75.
*Shchelochkov OA, Li FY, Wang J, Zhan H, Towbin JA, Jefferies JL, Wong LJ, Scaglia F. Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70. Mol Genet Metab. 2010 OctNov;101(2-3):282-285. PMID: 20728387,
Full Text
(with PubMed access)
*Sin YY, Ballantyne LL, Mukherjee K, St. Amand T, Kyriakopoulou L, Schulze A, Funk CD. Inducible arginase 1 deficiency in mice leads to hyperargininemia and altered amino acid metabolism. PLoS One. 2013;8(11):e80001. PMID: 24224027, PMCID:
PMC3817112
*Sin YY, Ballantyne LL, Richmond CR, Funk CD.
Transplantation of gene
-
edited hepatocyte
-
like cells modestly
improves survival of arginase
-
1
-
deficient mice
.
Mol Ther Nucleic Acids. 2018 Mar 2;10:122-130. PMID:29499927, PMCID:
PMC5862027
*Sin YY, Baron G, Schulze A, Funk CD. Arginase-1 deficiency. J Mol Med (Berl). 2015 Dec;93(12):1287-96. PMID: 26467175
*Venkateswaran L, Scaglia F, McLin V, Hertel P, Shchelochkov OA, Karpen S, Mahoney D, Jr., Yee DL. Ornithine transcarbamylase deficiency: a possible risk factor for thrombosis. Pediatr Blood Cancer. 2009 Jul;53(1):100-102. PMID: 19343772, PMCID:
PMC4869977
*Wang J, Shchelochkov OA, Zhan H, Li F, Chen LC, Brundage EK, Pursley AN, Schmitt ES, Haberle J, Wong LJ. Molecular characterization of CPS1 deletions by array CGH. Mol Genet Metab. 2011 Jan;102(1):103-106. PMID: 20855223, PMCID:
PMC4869965
Chapters Resulting from Trainee Projects:
*EA Crombez, SD Cederbaum. Urea cycle disorders. In: Schapira AHV (ed) Neurology and Clinical Neuroscience. Mosby 2007, chapter 110, pp1469-1476.
*Lindsay C. Burrage, Brendan Lee, and Sandesh C.S. Nagamani; Urea Cycle Disorders, Rudolph Pediatrics, Chapter 141, p 23
rd
Edition, McGraw Hill, 2018
UCDC Consortium Publications:
Batshaw ML, Groft SC, Krischer JP. Research into rare diseases of childhood. JAMA. 2014 May 7;311(17):1729-1730. PMID: 24794360,
Full Text
(with PubMed access)
Nagamani SCS, Agarwal U, Tam A, Azamian M, McMeans A, Didelija IC, Mohammad MA, Marini JC. A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers. Genet Med. 2018 Jul; 20(7): 708–716. PMID: 29693650, PMCID:
PMC5924481
Publications Directly Resulting from UCDC-Related Activities
Ah Mew N, Caldovic L.
N
-
acetylglutamate synthase deficiency: an insight into the genetics, epidemiology,
pathophysiology, and treatment.
Appl Clin Genet. 2011 Aug 24;4:127-35. PMID: 23776373, PMCID:
PMC3681184
Barkovich E, Robinson C, Gropman A. (2016) Brain biomarkers and neuroimaging to diagnose urea cycle disorders and assess prognosis, Expert Opinion on Orphan Drugs, 4:11, 1123-1132.
Abstract
Barr FE, Beverley H, VanHook K, Cermak E, Christian K, Drinkwater D, Dyer K, Raggio NT, Moore JH, Christman B, Summar M. Effect of cardiopulmonary bypass on urea cycle intermediates and nitric oxide levels after congenital heart surgery. J Pediatr. 2003;142(1):26-30. PMID: 12520250,
Full Text
(with PubMed access)
Berry SA, Lichter-Konecki U, Diaz GA, McCandless SE, Rhead W, Smith W, Le Mons C, Nagamani SCS, Coakley DF, Mokhtarani M, Scharschmidt BF, Lee B. Glycerol phenylbutyrate treatment in children with urea cycle disorders: pooled analysis of short and long-term ammonia control and outcomes. Mol Genet Metab. 2014 May;112(1):17-24. PMID: 24630270, PMCID:
PMC4382922
Berry SA, Longo N, Diaz GA, McCandless SE, Smith WE, Harding CO, Zori R, Ficicioglu C, Lichter-Konecki U, Robinson B, Vockley J. Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2 months to 2 years. Mol Genet Metab. 2017;122(3):46-53. PMID: 28916119,
Full Text
Brunetti-Pierri N, Clarke C, Mane V, Palmer DJ, Lanpher B, Sun Q, O'Brien W, Lee B. Phenotypic correction of ornithine transcarbamylase deficiency using low dose helper-dependent adenoviral vectors. J Gene Med. 2008 Aug;10(8):890-896. PMID: 18563850, PMCID:
PMC2766563
Burgard P, Kölker S, Haege G, Lindner M, Hoffmann GF.
Neonatal mortality and outcome at the end of the first
year of life in early onset urea cycle disorders
-
review and meta
-
analysis of observational studies published
over
more than 35 years.
J Inherit Metab Dis. 2016;39:219-29. PMID:
26634836
Burrage LC, Miller MJ, Wong LJ, Kennedy AD, Sutton VR, Sun Q, Elsea SH, Graham BH. Elevations of C14:1 and C14:2 plasma acylcarnitines in fasted children: a diagnostic dilemma. J Pediatr. 2016;169:208-213.e202. PMID: 26602010, PMCID:
PMC4729603
Burrage LC, Nagamani SCS, Campeau PM, Lee BH. Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders. Hum Mol Genet. 2014 Sep 15;23(R1):R1-8. PMID: 24651065, PMCID:
PMC4170715
Caldovic L, Abdikarim I, Narain S, Tuchman M, Morizono H. Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update. Journal of Genetics and Genomics. 2015 May 20;42(5):181194. PMID: 26059767, PMCID:
PMC4565140
Caldovic L, Haskins N, Mumo A, Majumdar H, Pinter M, Tuchman M, Krufka A.
Expression pattern and
biochemical properties of zebrafish N
-
acetylglutamate synthase.
PLoS One. 2014 Jan 22;9(1):e85597. PMID: 24465614, PMCID:
PMC3899043
Caldovic L, Morizono M, Panglao M, Cheng SF, Packman S, Tuchman M. Null mutations in the Nacetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia. Hum Genet. 2003;112:364-368. PMID: 12594532,
Full Text
(with PubMed access)
Caldovic L, Morizono H, Tuchman M. Mutations and polymorphisms in the human N-acetylglutamate synthase gene. Hum Mutat. 2007;28:754-759. PMID: 17421020,
Full Text
Camacho JA, Mardach MR, Rioseco-Camacho N, Ruiz-Pesini E, Derbeneva O, Andrade D, Zaldivar F, Qu Y, Cederbaum SD. Clinical and functional characterization of a human ORNT1mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. Pediatr Res. 2006;60:423-429. PMID: 16940241,
Full Text
Campeau PM, Pivalizza PJ, Miller G, McBride K, Karpen S, Goss J, Lee BH. Early orthotopic liver transplantation in urea cycle defects: follow up of a developmental outcome study. Mol Genet Metab. 2010;100 Suppl 1:S84-87. PMID: 20223690, PMCID:
PMC2867349
Cartagena A, Prasad AN, Rupar CA, Strong M, Tuchman M, Ah Mew N, Prasad C.
Recurrent encephalopathy:
NAGS (N
-
acetylglutamate synthase) deficiency in adults.
Can J Neurol Sci. 2013 Jan;40(1):3-9. PMID: 23250120, PMCID:
PMC4131410
Cotton RG, Auerbach AD, Beckmann JS, Blumenfeld OO, Brookes AJ, Brown AF, Carrera P, Cox DW,
Gottlieb B, Greenblatt MS, Hilbert P, Lehvaslaiho H, Liang P, Marsh S, Nebert DW, Povey S, Rossetti S, Scriver CR, Summar M, Tolan DR, Verma IC, Vihinen M, den Dunnen JT. Recommendations for locusspecific databases and their curation. Hum Mutat. 2008;29(1):2-5. PMID: 18157828, PMCID:
PMC2752432
Deignan JL, De Deyn PP, Cederbaum SD, Fuchshuber A, Roth B, Gsell W, Marescau B. Guanidino compound levels in blood, cerebrospinal fluid, and postmortem brain material of patients with argininemia. Mol Genet Metab. 2010;100 (suppl):S31-S36. PMID: 20176499,
Full Text
(with PubMed access)
Diaz GA, Krivitzky LS, Mokhtarani M, Rhead W, Bartley J, Feigenbaum A, Longo N, Berquist W, Berry SA, Gallagher R, Lichter-Konecki U, Bartholomew D, Harding CO, Cederbaum S, McCandless SE, Smith W, Vockley G, Bart SA, Korson MS, Kronn D, Zori R, Merritt II JL, Nagamani SCS, Mauney J, Le Mons C, Dickinson K, Moors TL, Coakley DF, Scharschmidt BF, Lee B. Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. Hepatology. 2013 Jun;57(6):2171-2179. PMID: 22961727, PMCID:
PMC3557606
Dimmock DP, Kobayashi K, Iijima M, Tabata A, Wong LJ, Lee B, Saheki T, Scaglia F. Citrin deficiency: A novel cause of failure to thrive that responds to a high protein, low carbohydrate diet. Pediatrics. 2007;119:e773-e777. PMID: 17332192,
Full Text
(with PubMed access)
Dimmock DP, Trapane P, Feigenbaum A, Keegan CE, Thoene J, Cederbaum S, Gibson J, Gambello M, Muenzer J, Vaux K, O'Brien WO, Fang P. The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia. Am J Med Genet A. 2008 Nov 15; 146A(22): 2885–2890. PMID: 18925679, PMCID:
PMC2597641
Dobrowolski SF, Ellingson C, Caldovic L, Tuchman M. Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model system. Hum Mutat. 2007;28:1133-1140. PMID: 17565723
Eeds AM, Hall LD, Yadav M, Willis A, Summar S, Putnam A, Barr F, Summar ML. The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency. Mol Genet Metab. 2006;89:80-86. PMID: 16737834,
Full Text
(with PubMed access)
Ensenauer R, Tuchman M, El-Youssef M, Kotagal S, Ishitani MB, Matern D, Babovic-Vuksanovic D. Management and outcome of neonatal-onset ornithine transcarbamylase deficiency following liver transplantation at 60 days of life. Mol Genet Metab. 2005;84:363-366 PMID: 15781198,
Full Text
(with PubMed access)
Ferriero R, Manco G, Lamantea E, Nusco E, Ferrante MI, Sordino P, Stacpoole PW, Lee B, Zeviani M, Brunetti-Pierri N. Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis. Sci Transl Med. 2013 Mar 6;5(175):175ra131. PMID: 23467562, PMCID:
PMC4102924
Fike CD, Sidoryk-Wegrzynowicz M, Aschner M, Summar M, Prince LS, Cunningham G, Kaplowitz M, Zhang Y, Aschner JL. Prolonged hypoxia augments L-citrulline transport by system A in the newborn piglet pulmonary circulation. Cardiovasc Res. 2012 Aug 1;95(3):375-384. PMID: 22673370, PMCID:
PMC3400357
Griggs RC, Batshaw M, Dunkle M, Gopal-Srivastava R, Kaye E, Krischer J, Nguyen T, Paulus K, Merkel P, for the Rare Diseases Clinical Research Network. Clinical research for rare diseases: opportunities, challenges, and solutions. Mol Genet Metab. 2009 Jan; 96(1): 20–26. PMID: 19013090, PMCID:
PMC3134795
Helman G, Pacheco-Colon I, Gropman AL. The urea cycle disorders. Semin Neurol. 2014 Jul;34(3):341-349. PMID: 25192511
Heringer J, Valayannopoulos V, Lund AM, Wijburg FA, Freisinger P, Barić I, Baumgartner MR, Burgard P, Burlina AB, Chapman KA, I Saladelafont EC, Karall D, Mühlhausen C, Riches V, Schiff M, Sykut-Cegielska J, Walter JH, Zeman J, Chabrol B, Kölker S, additional individual contributors of the E-IMD consortium. Impact of age at onset and newborn screening on outcome in organic acidurias. J Inherit Metab Dis. 2015 Dec 21. PMID: 26689403,
Full
Text
(with PubMed access)
Jamiolkowski D, Kölker S, Glahn EM, Barić I, Zeman J, Baumgartner MR, Mühlhausen C, Garcia-Cazorla A, Gleich F, Haege G, Burgard P; E-IMD consortium.
Behavioural and emotional problems, intellectual
impairment and health
-
related quality of life in patients with organic acidurias and urea cycle disorders.
J Inherit Metab Dis. 2016; 39: 231-41. PMID:
26310964
Jichlinski A, Clarke L, Whitehead MT, Gropman A. "Cerebral palsy" in a patient with arginase deficiency. Semin Pediatr Neurol. 2018;26:110-114.
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Kasumov T, Brunengraber LL, Comte B, Puchowicz MA, Jobbins K, Thomas K, David F, Kinman R, Wehrli S, Dahms W, Kerr D, Nissim I, Brunengraber H. New secondary metabolites of phenylbutyrate in humans and rats. Drug Metab Dispos. 2004;32:10-19. PMID: 14709615,
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Kho J, Tian X, Wong WT, Bertin T, Jiang MM, Chen S, Jin Z, Shchelochkov OA, Burrage LC, Reddy AK, Jiang H, Abo-Zahrah R, Ma S, Zhang P, Bissig KD, Kim JJ, Devaraj S, Rodney GG, Erez A, Bryan NS, Nagamani SCS, Lee BH. Argininosuccinate lyase deficiency causes an endothelial-dependent form of hypertension. Am J Hum Genet. 2018 Aug 2;103(2):276-287. PMID: 30075114, PMCID: PMC6080833
Kolker S, Garcia-Cazorla A, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, I Saladelafont EC, Couce ML, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, de Baulny HO, Ortez C, Peña-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Burgard P. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab Dis. 2015 Nov;38(6):1041-1057. PMID: 25875215,
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(with PubMed access)
Kolker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, Rasmussen MB, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González MJ, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny HO, Ortez C, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Lund AM, Garcia-Cazorla A. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. J Inherit Metab Dis. 2015 Nov;38(6):1059-1074. PMID: 25875216,
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(with PubMed access)
Landau YE, Lichter-Konecki U, Levy HL. Genomics in newborn screening. J Pediatr. 2014 Jan;164(1):14-19. PMID: 23992678,
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(with PubMed access)
Lee B, Diaz GA, Rhead W, Lichter-Konecki U, Feigenbaum A, Berry SA, Le Mons C, Bartley JA, Longo N, Nagamani SCS, Berquist W, Gallagher RC, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Cederbaum S, Wong D, Merritt JL, Schulze A, Vockley G, Kronn D, Zori R, Summar M, Milikien DA, Marino M, Coakley DF, Mokhtarani M, the UCD Consortium, Scharschmidt BF. Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder. Genet Med. 2015 Jul;17(7):561-568. PMID: 25503497, PMCID:
PMC4465427
Lee B, Diaz GA, Rhead W, Lichter-Konecki U, Feigenbaum A, Berry SA, Le Mons C, Bartley J, Longo N, Nagamani SC, Berquist W, Gallagher RC, Harding CO, McCandless SE, Smith W, Schulze A, Marino M, Rowell R, Coakley DF, Mokhtarani M, Scharschmidt BF. Glutamine and hyperammonemic crises in patients with urea cycle disorders. Mol Genet Metab. 2016; 117(1):27-32. PMID: 26586473, PMCID:
PMC4915945
Lee B, Rhead W, Diaz GA, Scharschmidt BF, Mian A, Shchelochkov O, Marier JF, Beliveau M, Mauney J, Dickinson K, Martinez A, Gargosky S, Mokhtarani M, Berry SA. Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: safety, pharmacokinetics and ammonia control. Mol Genet Metab. 2010 Jul;100(3):221-228. PMID: 20382058, PMCID:
PMC2905228
Lee B, Singh RH, Rhead WJ, Sniderman KL, Smith W, Summar ML. Considerations in the difficult-to-manage urea cycle disorder patient. Crit Care Clin. 2005;21(4 Suppl):S19-S25. PMID: 16227112,
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(with PubMed access)
Lichter-Konecki U, Caldovic L, Morizono H, Simpson K. Ornithine Transcarbamylase Deficiency. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. 2013 Aug 29. PMID: 24006547,
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Lichter-Konecki U, Diaz GA, Merritt JL, 2nd, Feigenbaum A, Jomphe C, Marier JF, Beliveau M, Mauney J, Dickinson K, Martinez A, Mokhtarani M, Scharschmidt B, Rhead W. Ammonia control in children with urea cycle disorders (UCDs); phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate. Mol Genet Metab. 2011 Aug;103(4):323-329. PMID: 21612962, PMCID:
PMC4880058
Lichter-Konecki U, Nadkarni V, Moudgil A, Cook N, Poeschl J, Meyer MT, Dimmock D, Baumgart S.
Feasibility
of adjunct therapeutic hypothermia treatment for hyperammonemia and encephalopathy due to urea cycle disorders and organic acidemias.
Mol Genet Metab. 2013 Aug;109(4):354-9. PMID: 23791307,
Full Text
(with PubMed access)
Lotrecchiano, GR. A dynamical approach toward understanding mechanisms of team science: change, kinship, tension, and heritage in a transdisciplinary team. Clin Transl Sci. 2013 Aug;6(4): 267–278. PMID: 23919361, PMCID:
PMC5350836
MacArthur RB, Altincatal A, Tuchman M. Pharmacokinetics of sodium phenylacetate and sodium benzoate following intravenous administration as both a bolus and continuous infusion to healthy adult volunteers. Mol Genet Metab. 2004;Suppl:67-73. PMID: 15050977,
Full Text
(with PubMed access)
Marini JC, Lanpher BC, Scaglia F, O'Brien WE, Sun Q, Garlick PJ, Jahoor F, Lee B. Phenylbutyrate improves nitrogen disposal via an alternative pathway without eliciting an increase in protein breakdown and catabolism in control and ornithine transcarbamylase-deficient patients. Am J Clin Nutr. 2011 Jun;93(6):1248-1254. PMID: 21490144, PMCID:
PMC3095500
McBride K, Miller G, Carter S, Karpen S, Goss J, Lee B. Developmental outcomes in early orthotopic liver transplantation for infants with neonatal onset urea cycle disorders and a female with late onset ornithine transcarbamylase deficiency. Pediatrics. 2004;114:e523-e526.
Full Text
Mc Guire PJ, Parikh A, Diaz GA. Profiling of oxidative stress in patients with inborn errors of metabolism. Mol Genet Metab. 2009 Sep-Oct;98(1-2):173-180. PMID: 19604711, PMCID:
PMC2915835
Merkel PA, Manion M, Gopal-Srivastava R, Groft S, Jinnah HA, Robertson D, Krischer JP; Rare Diseases Clinical Research Network.
The partnership of patient advocacy groups and clinical investigators in the rare
diseases clinical research network.
Orphanet J Rare Dis. 2016 May 18;11(1):66. PMID: 27194034, PMCID:
PMC
4870759
Meyburg J, Opladen T, Spiekerkötter U, Schlune A, Schenk JP, Schmidt J, Weitz J, Okun J, Bürger F, Omran TB, Abdoh G, Al Rifai H, Monavari A, Konstantopoulou V, Kölker S, Yudkoff M, Hoffmann GF.
Human
heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea
cycle disorders.
J Inherit Metab Dis. 2018;41:81-90. PMID:
29027067
Mitchell S, Ellingson C, Coyne T, Hall L, Neill M, Christian N, Higham C, Dobrowolski SF, Tuchman M, the Urea Cycle Disorder Consortium, Summar M. Genetic variation in the urea cycle: A model resource for investigating key candidate genes for common diseases. Hum Mutat. 2009;30(1):56-60. PMID: 18666241
Mitchell S, Welch-Burke T, Dumitrescu L, Lomenick JP, Murdock DG, Crawford DC, Summar M. Peptide tyrosine tyrosine levels are increased in patients with urea cycle disorders. Mol Genet Metab. 2012 May;106(1):39-42. PMID: 22459207, PMCID:
PMC3336020
Mokhtarani M, Diaz GA, Rhead W, Berry SA, Lichter-Konecki U, Feigenbaum A, Schulze A, Longo N, Bartley J, Berquist W, Gallagher R, Smith W, McCandless SE, Harding C, Rockey DC, Vierling JM, Mantry P, Ghabril M, Brown RS Jr., Dickinson K, Moors T, Norris C, Coakley D, Milikien DA, Nagamani SCS, Le Mons C, Lee B, Scharschmidt BF.
Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea
cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio.
Mol Genet Metab. 2013 Dec;110(4):446-53. PMID: 24144944, PMCID:
PMC4108288
Mokhtarani M, Diaz GA, Rhead W, Lichter-Konecki U, Bartley J, Feigenbaum A, Longo N, Berquist W, Berry SA, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Vockley J, Bart SA, Kronn D, Zori R, Cederbaum S, Dorrani N, Merritt II JL, Nagamani SCS, Summar M , Le Mons C, Dickinson K, Coakley DF, Moors TL, Lee B, and Scharschmidt BF. Urinary phenylacetylgutamine as dosing biomarker for patients with urea cycle disorders. Mol Genet Metab. 2012 Nov; 107(3): 308–314. PMID: 22958974, PMCID:
PMC3608516
Nagamani SCS, Campeau PM, Shchelochkov OA, Guse K, Premkumar MH, Brunetti-Pierri N, Chen Y, Sun Q, Tang Y, Palmer D, Reddy A, Li L, Timothy S, Fieg D, Caudle S, Harrison D, Salviati L, Marini J, Bryan NS, Erez A, Lee B. Nitric oxide supplementation for treatment of long term complications in argininosuccinic aciduria. American Journal of Human Genetics. 2012;90:836-46. PMID: 22541557, PMCID:
PMC33764
91
Nagamani SCS, Diaz GA, Rhead W, Berry SA, Le Mons C, Lichter-Konecki U, Bartley J, Feigenbaum A, Schulze A, Longo N, Berquist W, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Vockley J, Kronn D, Zori R, Cederbaum S, Merritt JL, II, Wong D, Coakley DF, Scharschmidt BF, Dickinson K, Marino M, Lee BH, Mokhtarani M. Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials. Mol Genet Metab, 2015. 116(12):29-34. PMID: 26296711, PMCID:
PMC4804346
Nagamani SCS, Shchelochkov OA, Mullins MA, Carter S, Lanpher BC, Sun Q, Kleppe S, Erez A, O'Brian Smith E, Marini JC, Lee B. A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria. Mol Genet Metab. 2012 Nov;107(3):315-321. PMID: 23040521, PMCID:
PMC3483446
Nettesheim S, Kölker S, Karall D, Häberle J, Posset R, Hoffmann GF, Heinrich B, Gleich F, Garbade SF; Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (APS); European registry and network for Intoxication type Metabolic Diseases (E-IMD); Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (ESPED); Austrian Metabolic Group; Swiss Paediatric Surveillance Unit (SPSU).
Incidence,
disease onset and short
-
term outcome in urea cycle disorders
-
cross
-
border surveillance in Germany, Austria
and Switzerland.
Orphanet J Rare Dis. 2017;12:111. PMID:
28619060,
PMCID:
PMC5472961
Opladen T, Lindner M, Das AM, Marquardt T, Khan A, Emre SH, Burton BK, Barshop BA, Böhm T, Meyburg J, Zangerl K, Mayorandan S, Burgard P, Dürr UH, Rosenkranz B, Rennecke J, Derbinski J, Yudkoff M, Hoffmann GF.
In vivo monitoring of urea cycle activity with (13)C
-
acetate as a tracer of ureagenesis.
Mol Genet Metab. 2016 Jan;117(1):19-26. PMID: 26597322
Posset R, Garcia-Cazorla A, Valayannopoulos V, Teles EL, Dionisi-Vici C, Brassier A, Burlina AB, Burgard P, Cortès-Saladelafont E, Dobbelaere D, Couce ML, Sykut-Cegielska J, Häberle J, Lund AM, Chakrapani A, Schiff M, Walter JH, Zeman J, Vara R, Kölker S, additional individual contributors of the E-IMD consortium.
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological
outcome in urea cycle disorders.
J Inherit Metab Dis. 2016;39:661-672. PMID: 27106216
Quintero-Rivera F, Deignan J, Peredo J, Grody W, Crandall B, Sims M, Cederbaum S. An exon 1 deletion in OTC identified using chromosomal microarray analyses in a mother and her two affected deceased newborns: implications for the prenatal diagnosis of ornithine transcarbamylase deficiency. Mol Genet Metab. 2010;101:413-416. PMID: 20817516,
Full Text
(with PubMed access)
Rohininath T, Costello DJ, Lynch T, Monavari A, Tuchman M, Treacy EP. Fatal presentation of ornithine transcarbamylase deficiency in a 62-year-old man and family studies. J Inherit Metab Dis. 2004;27:285-288. PMID: 15243986
Scaglia F, Carter S, O’Brien W, Lee B. Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients. Mol Genet Metab. 2004;81S:79-85. PMID: 15050979,
Full Text
(with PubMed access)
Scaglia F, Rosenberger J, Henry J, Lee B, Reeds P. Differential utilization of systemic and enteral ammonia for urea synthesis in control subjects and carriers for ornithine transcarbamylase deficiency. Am J Clin Nutr. 2003;78:749-755. PMID: 14522733,
Full Text
Schrier Vergano SA, Le Mons C. Hyperammonemia in Neonates: Looking beyond sepsis. Neonatology Today 2017 Dec, Vol 13/Issue 12, pp 15-16. Online
Full Text
Shchelochkov OA, Li F, Geraghty MT, Gallagher RC, Van Hove JL, Lichter-Konecki U, Fernhoff PM, Copeland S, Reimschisel,T, Cederbaum S, Lee B, Chinault AC, Wong L. High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide Array CGH. Mol Genet Metab. 2009;96: 97-105. PMID: 19138872,
Full Text
(with PubMed access)
Shi D, Allewell NM, Tuchman M. From genome to structure and back again: A family portrait of the transcarbamylases. Int J Mol Sci. 2015;16(8):18836-18864. PMID: 26274952, PMCID:
PMC4581275
Shi D, Allewell NM, Tuchman M.
The n
-
acetylglutamate synthase family: Structures, function and mechanisms
.
Int J Mol Sci. 2015 Jun 9;16(6):13004-22. PMID: 26068232, PMCID:
PMC4490483
Singh RH, Rhead WJ, Smith W, Lee B, King LS, Summar M. Nutritional management of urea cycle disorders. Crit Care Clin. 2005;21(4 Suppl)S27-S35. PMID: 16227113,
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