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Items: 1 to 20 of 178

1.

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. 2017 Oct 12. doi: 10.1007/s10545-017-0097-4. [Epub ahead of print]

PMID:
29027067
2.

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.

PMID:
28151490
3.

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

DeBrosse C, Nanga RP, 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.

4.

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.

5.

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.

PMID:
26597322
6.

Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency.

Burrage LC, Sun Q, Elsea SH, Jiang MM, Nagamani SC, Frankel AE, Stone E, Alters SE, Johnson DE, Rowlinson SW, Georgiou G; Members of Urea Cycle Disorders Consortium, Lee BH.

Hum Mol Genet. 2015 Nov 15;24(22):6417-27. doi: 10.1093/hmg/ddv352. Epub 2015 Sep 10.

7.

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.

PMID:
26185144
8.

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.

9.

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.

10.

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.

11.

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.

PMID:
25652179
12.

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):111-5. doi: 10.1038/gt.2014.106. Epub 2014 Dec 4. Erratum in: Gene Ther. 2015 Feb;22(2):216. Gene Ther. 2015 Feb;22(2):216. Cantero-Nieto, G [corrected to Cantero, G].

13.

A longitudinal study of urea cycle disorders.

Batshaw ML, Tuchman M, Summar M, Seminara J; Members of the Urea Cycle Disorders Consortium.

Mol Genet Metab. 2014 Sep-Oct;113(1-2):127-30. doi: 10.1016/j.ymgme.2014.08.001. Epub 2014 Aug 10. Review.

14.

Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders.

Burrage LC, Jain M, Gandolfo L, Lee BH; Members of the Urea Cycle Disorders Consortium, Nagamani SC.

Mol Genet Metab. 2014 Sep-Oct;113(1-2):131-5. doi: 10.1016/j.ymgme.2014.06.005. Epub 2014 Jul 3.

15.

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.

16.

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.

17.

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.

18.

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.

19.

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.

20.

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.

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