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Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy.

Cohen JL, Burfield J, Valdez-Gonzalez K, Samuels A, Stefanatos AK, Yudkoff M, Pedro H, Ficicioglu C.

Orphanet J Rare Dis. 2019 Aug 14;14(1):198. doi: 10.1186/s13023-019-1129-y.


Developing interactions with industry in rare diseases: lessons learned and continuing challenges.

Berry SA, Coughlin CR 2nd, McCandless S, McCarter R, Seminara J, Yudkoff M, LeMons C.

Genet Med. 2019 Jul 24. doi: 10.1038/s41436-019-0616-9. [Epub ahead of print]


Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.

Posset R, Gropman AL, Nagamani SCS, Burrage LC, Bedoyan JK, Wong D, Berry GT, Baumgartner MR, Yudkoff M, Zielonka M, Hoffmann GF, Burgard P, Schulze A, McCandless SE, Garcia-Cazorla A, Seminara J, Garbade SF, Kölker S; Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases Consortia Study Group.

Ann Neurol. 2019 Jul;86(1):116-128. doi: 10.1002/ana.25492. Epub 2019 May 13.


Phase I/II Trial of Liver-derived Mesenchymal Stem Cells in Pediatric Liver-based Metabolic Disorders: A Prospective, Open Label, Multicenter, Partially Randomized, Safety Study of One Cycle of Heterologous Human Adult Liver-derived Progenitor Cells (HepaStem) in Urea Cycle Disorders and Crigler-Najjar Syndrome Patients.

Smets F, Dobbelaere D, McKiernan P, Dionisi-Vici C, Broué P, Jacquemin E, Lopes AI, Gonçalves I, Mandel H, Pawlowska J, Kamińska D, Shteyer E, Torre G, Shapiro R, Eyskens F, Clapuyt P, Gissen P, Pariente D, Grunewald S, Yudkoff M, Binda MM, Najimi M, Belmonte N, de Vos B, Thonnard J, Sokal E.

Transplantation. 2019 Sep;103(9):1903-1915. doi: 10.1097/TP.0000000000002605.


Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium.

Ah Mew N, Cnaan A, McCarter R, Choi H, Glass P, Rice K, Scavo L, Gillespie CW, Diaz GA, Berry GT, Wong D, Konczal L, McCandless SE, Coughlin Ii CR, Weisfeld-Adams JD, Ficicioglu C, Yudkoff M, Enns GM, Lichter-Konecki U, Gallagher R, Tuchman M.

Transl Sci Rare Dis. 2018 Dec 20;3(3-4):157-170. doi: 10.3233/TRD-180031.


Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia.

Wild KT, Ganetzky RD, Yudkoff M, Ierardi-Curto L.

JIMD Rep. 2019;44:103-107. doi: 10.1007/8904_2018_132. Epub 2018 Sep 6.


Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism.

Chapman KA, Ostrovsky J, Rao M, Dingley SD, Polyak E, Yudkoff M, Xiao R, Bennett MJ, Falk MJ.

J Inherit Metab Dis. 2018 Mar;41(2):157-168. doi: 10.1007/s10545-017-0111-x. Epub 2017 Nov 20.


A role for bacterial urease in gut dysbiosis and Crohn's disease.

Ni J, Shen TD, Chen EZ, Bittinger K, Bailey A, Roggiani M, Sirota-Madi A, Friedman ES, Chau L, Lin A, Nissim I, Scott J, Lauder A, Hoffmann C, Rivas G, Albenberg L, Baldassano RN, Braun J, Xavier RJ, Clish CB, Yudkoff M, Li H, Goulian M, Bushman FD, Lewis JD, Wu GD.

Sci Transl Med. 2017 Nov 15;9(416). pii: eaah6888. doi: 10.1126/scitranslmed.aah6888.


Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders.

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.

J Inherit Metab Dis. 2018 Jan;41(1):81-90. doi: 10.1007/s10545-017-0097-4. Epub 2017 Oct 12.


Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience.

Ahrens-Nicklas RC, Whitaker AM, Kaplan P, Cuddapah S, Burfield J, Blair J, Brochi L, Yudkoff M, Ficicioglu C.

Genet Med. 2017 Aug;19(8):926-935. doi: 10.1038/gim.2016.214. Epub 2017 Feb 2.


Muscle oxidative phosphorylation quantitation using creatine chemical exchange saturation transfer (CrCEST) MRI in mitochondrial disorders.

DeBrosse C, Nanga RPR, Wilson N, D'Aquilla K, Elliott M, Hariharan H, Yan F, Wade K, Nguyen S, Worsley D, Parris-Skeete C, McCormick E, Xiao R, Cunningham ZZ, Fishbein L, Nathanson KL, Lynch DR, Stallings VA, Yudkoff M, Falk MJ, Reddy R, McCormack SE.

JCI Insight. 2016 Nov 3;1(18):e88207. doi: 10.1172/jci.insight.88207.


Interactions in the Metabolism of Glutamate and the Branched-Chain Amino Acids and Ketoacids in the CNS.

Yudkoff M.

Neurochem Res. 2017 Jan;42(1):10-18. doi: 10.1007/s11064-016-2057-z. Epub 2016 Oct 1. Review.


In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesis.

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.

Mol Genet Metab. 2016 Jan;117(1):19-26. doi: 10.1016/j.ymgme.2015.11.007. Epub 2015 Nov 14.


Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.

Chung WK, Martin K, Jalas C, Braddock SR, Juusola J, Monaghan KG, Warner B, Franks S, Yudkoff M, Lulis L, Rhodes RH, Prasad V, Torti E, Cho MT, Shinawi M.

J Med Genet. 2015 Sep;52(9):627-35. doi: 10.1136/jmedgenet-2015-103140. Epub 2015 Jul 16.


Regulation of brain glutamate metabolism by nitric oxide and S-nitrosylation.

Raju K, Doulias PT, Evans P, Krizman EN, Jackson JG, Horyn O, Daikhin Y, Nissim I, Yudkoff M, Nissim I, Sharp KA, Robinson MB, Ischiropoulos H.

Sci Signal. 2015 Jul 7;8(384):ra68. doi: 10.1126/scisignal.aaa4312.


Engineering the gut microbiota to treat hyperammonemia.

Shen TC, Albenberg L, Bittinger K, Chehoud C, Chen YY, Judge CA, Chau L, Ni J, Sheng M, Lin A, Wilkins BJ, Buza EL, Lewis JD, Daikhin Y, Nissim I, Yudkoff M, Bushman FD, Wu GD.

J Clin Invest. 2015 Jul 1;125(7):2841-50. doi: 10.1172/JCI79214. Epub 2015 Jun 22.


Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis.

Bhoj EJ, Li M, Ahrens-Nicklas R, Pyle LC, Wang J, Zhang VW, Clarke C, Wong LJ, Sondheimer N, Ficicioglu C, Yudkoff M.

JIMD Rep. 2015;19:59-66. doi: 10.1007/8904_2014_364. Epub 2015 Feb 15.


Minimal ureagenesis is necessary for survival in the murine model of hyperargininemia treated by AAV-based gene therapy.

Hu C, Tai DS, Park H, Cantero G, Chan E, Yudkoff M, Cederbaum SD, Lipshutz GS.

Gene Ther. 2015 Feb;22(2):216. doi: 10.1038/gt.2014.127. No abstract available.


Minimal ureagenesis is necessary for survival in the murine model of hyperargininemia treated by AAV-based gene therapy.

Hu C, Tai DS, Park H, Cantero G, Cantero-Nieto G, Chan E, Yudkoff M, Cederbaum SD, Lipshutz GS.

Gene Ther. 2015 Feb;22(2):111-5. doi: 10.1038/gt.2014.106. Epub 2014 Dec 4. Erratum in: Gene Ther. 2015 Feb;22(2):216.


Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with N-carbamyl-L-glutamate.

Ah Mew N, McCarter R, Daikhin Y, Lichter-Konecki U, Nissim I, Yudkoff M, Tuchman M.

J Pediatr. 2014 Aug;165(2):401-403.e3. doi: 10.1016/j.jpeds.2014.04.012. Epub 2014 May 29.


Stable isotopes in the diagnosis and treatment of inherited hyperammonemia.

Mew NA, Yudkoff M, Tuchman M.

J Pediatr Biochem. 2014 Jan 1;4(1):57-63.


The molecular and metabolic influence of long term agmatine consumption.

Nissim I, Horyn O, Daikhin Y, Chen P, Li C, Wehrli SL, Nissim I, Yudkoff M.

J Biol Chem. 2014 Apr 4;289(14):9710-29. doi: 10.1074/jbc.M113.544726. Epub 2014 Feb 12.


In vivo metabolic flux profiling with stable isotopes discriminates sites and quantifies effects of mitochondrial dysfunction in C. elegans.

Vergano SS, Rao M, McCormack S, Ostrovsky J, Clarke C, Preston J, Bennett MJ, Yudkoff M, Xiao R, Falk MJ.

Mol Genet Metab. 2014 Mar;111(3):331-341. doi: 10.1016/j.ymgme.2013.12.011. Epub 2013 Dec 27.


Mitochondrial respiratory chain disease discrimination by retrospective cohort analysis of blood metabolites.

Clarke C, Xiao R, Place E, Zhang Z, Sondheimer N, Bennett M, Yudkoff M, Falk MJ.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):145-52. doi: 10.1016/j.ymgme.2013.07.011. Epub 2013 Jul 19.


Regulation of glucagon secretion in normal and diabetic human islets by γ-hydroxybutyrate and glycine.

Li C, Liu C, Nissim I, Chen J, Chen P, Doliba N, Zhang T, Nissim I, Daikhin Y, Stokes D, Yudkoff M, Bennett MJ, Stanley CA, Matschinsky FM, Naji A.

J Biol Chem. 2013 Feb 8;288(6):3938-51. doi: 10.1074/jbc.M112.385682. Epub 2012 Dec 24.


Effects of a glucokinase activator on hepatic intermediary metabolism: study with 13C-isotopomer-based metabolomics.

Nissim I, Horyn O, Nissim I, Daikhin Y, Wehrli SL, Yudkoff M, Matschinsky FM.

Biochem J. 2012 Jun 15;444(3):537-51. doi: 10.1042/BJ20120163.


The glutamate transporter, GLAST, participates in a macromolecular complex that supports glutamate metabolism.

Bauer DE, Jackson JG, Genda EN, Montoya MM, Yudkoff M, Robinson MB.

Neurochem Int. 2012 Sep;61(4):566-74. doi: 10.1016/j.neuint.2012.01.013. Epub 2012 Jan 28.


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.

Heibel SK, Ah Mew N, Caldovic L, Daikhin Y, Yudkoff M, Tuchman M.

Hum Mutat. 2011 Oct;32(10):1153-60. doi: 10.1002/humu.21553. Epub 2011 Sep 9.


Down-regulation of hepatic urea synthesis by oxypurines: xanthine and uric acid inhibit N-acetylglutamate synthase.

Nissim I, Horyn O, Nissim I, Daikhin Y, Caldovic L, Barcelona B, Cervera J, Tuchman M, Yudkoff M.

J Biol Chem. 2011 Jun 24;286(25):22055-68. doi: 10.1074/jbc.M110.209023. Epub 2011 May 3.


Stable isotopic profiling of intermediary metabolic flux in developing and adult stage Caenorhabditis elegans.

Falk MJ, Rao M, Ostrovsky J, Daikhin E, Nissim I, Yudkoff M.

J Vis Exp. 2011 Feb 27;(48). pii: 2288. doi: 10.3791/2288.


N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia.

Ah Mew N, McCarter R, Daikhin Y, Nissim I, Yudkoff M, Tuchman M.

Pediatrics. 2010 Jul;126(1):e208-14. doi: 10.1542/peds.2010-0008. Epub 2010 Jun 21.


Measuring in vivo ureagenesis with stable isotopes.

Yudkoff M, Ah Mew N, Daikhin Y, Horyn O, Nissim I, Nissim I, Payan I, Tuchman M.

Mol Genet Metab. 2010;100 Suppl 1:S37-41. doi: 10.1016/j.ymgme.2010.02.017. Epub 2010 Feb 26.


N-acetylglutamate synthase: structure, function and defects.

Caldovic L, Ah Mew N, Shi D, Morizono H, Yudkoff M, Tuchman M.

Mol Genet Metab. 2010;100 Suppl 1:S13-9. doi: 10.1016/j.ymgme.2010.02.018. Epub 2010 Feb 26. Review.


Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium.

Seminara J, Tuchman M, Krivitzky L, Krischer J, Lee HS, Lemons 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.

Mol Genet Metab. 2010;100 Suppl 1:S97-105. doi: 10.1016/j.ymgme.2010.01.014. Epub 2010 Feb 10. Review.


Inflammation-induced preterm birth alters neuronal morphology in the mouse fetal brain.

Burd I, Bentz AI, Chai J, Gonzalez J, Monnerie H, Le Roux PD, Cohen AS, Yudkoff M, Elovitz MA.

J Neurosci Res. 2010 Jul;88(9):1872-81. doi: 10.1002/jnr.22368.


Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry.

Ficicioglu C, Coughlin CR 2nd, Bennett MJ, Yudkoff M.

J Pediatr. 2010 Mar;156(3):492-4. doi: 10.1016/j.jpeds.2009.10.031. Epub 2010 Jan 8.


Effects of a single dose of N-carbamylglutamate on the rate of ureagenesis.

Ah Mew N, Payan I, Daikhin Y, Nissim I, Nissim I, Tuchman M, Yudkoff M.

Mol Genet Metab. 2009 Dec;98(4):325-30. doi: 10.1016/j.ymgme.2009.07.010. Epub 2009 Jul 14. Erratum in: Mol Genet Metab. 2010 Apr;99(4):440.


Ketosis and brain handling of glutamate, glutamine, and GABA.

Yudkoff M, Daikhin Y, Horyn O, Nissim I, Nissim I.

Epilepsia. 2008 Nov;49 Suppl 8:73-5. doi: 10.1111/j.1528-1167.2008.01841.x. Review.


Myc regulates a transcriptional program that stimulates mitochondrial glutaminolysis and leads to glutamine addiction.

Wise DR, DeBerardinis RJ, Mancuso A, Sayed N, Zhang XY, Pfeiffer HK, Nissim I, Daikhin E, Yudkoff M, McMahon SB, Thompson CB.

Proc Natl Acad Sci U S A. 2008 Dec 2;105(48):18782-7. doi: 10.1073/pnas.0810199105. Epub 2008 Nov 24.


Cross-sectional multicenter study of patients with urea cycle disorders in the United States.

Tuchman M, Lee B, Lichter-Konecki U, Summar ML, Yudkoff M, Cederbaum SD, Kerr DS, Diaz GA, Seashore MR, Lee HS, McCarter RJ, Krischer JP, Batshaw ML; Urea Cycle Disorders Consortium of the Rare Diseases Clinical Research Network.

Mol Genet Metab. 2008 Aug;94(4):397-402. doi: 10.1016/j.ymgme.2008.05.004. Epub 2008 Jun 17.


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.

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.

Mol Genet Metab. 2008 Aug;94(4):498-502. doi: 10.1016/j.ymgme.2008.04.011. Epub 2008 Jun 3.


Elimination of KATP channels in mouse islets results in elevated [U-13C]glucose metabolism, glutaminolysis, and pyruvate cycling but a decreased gamma-aminobutyric acid shunt.

Li C, Nissim I, Chen P, Buettger C, Najafi H, Daikhin Y, Nissim I, Collins HW, Yudkoff M, Stanley CA, Matschinsky FM.

J Biol Chem. 2008 Jun 20;283(25):17238-49. doi: 10.1074/jbc.M709235200. Epub 2008 Apr 29.


Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease.

Peng M, Falk MJ, Haase VH, King R, Polyak E, Selak M, Yudkoff M, Hancock WW, Meade R, Saiki R, Lunceford AL, Clarke CF, Gasser DL.

PLoS Genet. 2008 Apr 25;4(4):e1000061. doi: 10.1371/journal.pgen.1000061.


N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers.

Tuchman M, Caldovic L, Daikhin Y, Horyn O, Nissim I, Nissim I, Korson M, Burton B, Yudkoff M.

Pediatr Res. 2008 Aug;64(2):213-7. doi: 10.1203/PDR.0b013e318179454b.


3-isobutylmethylxanthine inhibits hepatic urea synthesis: protection by agmatine.

Nissim I, Horyn O, Nissim I, Daikhin Y, Wehrli SL, Yudkoff M.

J Biol Chem. 2008 May 30;283(22):15063-71. doi: 10.1074/jbc.M800163200. Epub 2008 Mar 28.


1H MRS allows brain phenotype differentiation in sisters with late onset ornithine transcarbamylase deficiency (OTCD) and discordant clinical presentations.

Gropman AL, Seltzer RR, Yudkoff M, Sawyer A, VanMeter J, Fricke ST.

Mol Genet Metab. 2008 May;94(1):52-60. doi: 10.1016/j.ymgme.2007.12.008. Epub 2008 Feb 11.


Metabolic pathway profiling of mitochondrial respiratory chain mutants in C. elegans.

Falk MJ, Zhang Z, Rosenjack JR, Nissim I, Daikhin E, Nissim I, Sedensky MM, Yudkoff M, Morgan PG.

Mol Genet Metab. 2008 Apr;93(4):388-97. doi: 10.1016/j.ymgme.2007.11.007. Epub 2008 Feb 21.


Beyond aerobic glycolysis: transformed cells can engage in glutamine metabolism that exceeds the requirement for protein and nucleotide synthesis.

DeBerardinis RJ, Mancuso A, Daikhin E, Nissim I, Yudkoff M, Wehrli S, Thompson CB.

Proc Natl Acad Sci U S A. 2007 Dec 4;104(49):19345-50. Epub 2007 Nov 21.


The ketogenic diet and brain metabolism of amino acids: relationship to the anticonvulsant effect.

Yudkoff M, Daikhin Y, Melø TM, Nissim I, Sonnewald U, Nissim I.

Annu Rev Nutr. 2007;27:415-30. Review.


Evaluation of formulas for calculating total energy requirements of preadolescent children with cystic fibrosis.

Trabulsi J, Ittenbach RF, Schall JI, Olsen IE, Yudkoff M, Daikhin Y, Zemel BS, Stallings VA.

Am J Clin Nutr. 2007 Jan;85(1):144-51.


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