Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 232

1.

Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria.

Longo N, Dimmock D, Levy H, Viau K, Bausell H, Bilder DA, Burton B, Gross C, Northrup H, Rohr F, Sacharow S, Sanchez-Valle A, Stuy M, Thomas J, Vockley J, Zori R, Harding CO.

Genet Med. 2018 Dec 14. doi: 10.1038/s41436-018-0403-z. [Epub ahead of print]

PMID:
30546086
2.

Mitochondrial energetics is impaired in very long-chain acyl-CoA dehydrogenase deficiency and can be rescued by treatment with mitochondria-targeted electron scavengers.

Seminotti B, Leipnitz G, Karunanidhi A, Kochersperger C, Roginskaya VY, Basu S, Wang Y, Wipf P, Van Houten B, Mohsen AW, Vockley J.

Hum Mol Genet. 2018 Nov 16. doi: 10.1093/hmg/ddy403. [Epub ahead of print]

PMID:
30445591
3.

Author Correction: Parent-of-origin-specific signatures of de novo mutations.

Goldmann JM, Wong WSW, Pinelli M, Farrah T, Bodian D, Stittrich AB, Glusman G, Vissers LELM, Hoischen A, Roach JC, Vockley JG, Veltman JA, Solomon BD, Gilissen C, Niederhuber JE.

Nat Genet. 2018 Nov;50(11):1615. doi: 10.1038/s41588-018-0226-5.

PMID:
30291356
4.

Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives.

Offiah AC, Vockley J, Munns CF, Murotsuki J.

Pediatr Radiol. 2019 Jan;49(1):3-22. doi: 10.1007/s00247-018-4239-0. Epub 2018 Oct 3. Review.

5.

Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2 months to 2 years of age with urea cycle disorders.

Berry SA, Vockley J, Vinks AA, Dong M, Diaz GA, McCandless SE, Smith WE, Harding CO, Zori R, Ficicioglu C, Lichter-Konecki U, Perdok R, Robinson B, Holt RJ, Longo N.

Mol Genet Metab. 2018 Nov;125(3):251-257. doi: 10.1016/j.ymgme.2018.09.001. Epub 2018 Sep 4.

6.

Short-Chain Acyl-CoA Dehydrogenase Deficiency.

Wolfe L, Jethva R, Oglesbee D, Vockley J.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2011 Sep 22 [updated 2018 Aug 9].

7.

Liver Transplantation for Propionic Acidemia and Methylmalonic Acidemia: Perioperative Management and Clinical Outcomes.

Critelli K, McKiernan P, Vockley J, Mazariegos G, Squires RH, Soltys K, Squires JE.

Liver Transpl. 2018 Sep;24(9):1260-1270. doi: 10.1002/lt.25304.

PMID:
30080956
8.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rötig A, Ardissone A, Lombès A, Catarino CB, Diodato D, Schottmann G, Poulton J, Burlina A, Jonckheere A, Munnich A, Rolinski B, Ghezzi D, Rokicki D, Wellesley D, Martinelli D, Wenhong D, Lamantea E, Ostergaard E, Pronicka E, Pierre G, Smeets HJM, Wittig I, Scurr I, de Coo IFM, Moroni I, Smet J, Mayr JA, Dai L, de Meirleir L, Schuelke M, Zeviani M, Morscher RJ, McFarland R, Seneca S, Klopstock T, Meitinger T, Wieland T, Strom TM, Herberg U, Ahting U, Sperl W, Nassogne MC, Ling H, Fang F, Freisinger P, Van Coster R, Strecker V, Taylor RW, Häberle J, Vockley J, Prokisch H, Wortmann S.

Orphanet J Rare Dis. 2018 Jul 19;13(1):120. doi: 10.1186/s13023-018-0784-8.

9.

Results from a 78-week, single-arm, open-label Phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD).

Vockley J, Burton B, Berry GT, Longo N, Phillips J, Sanchez-Valle A, Tanpaiboon P, Grunewald S, Murphy E, Bowden A, Chen W, Chen CY, Cataldo J, Marsden D, Kakkis E.

J Inherit Metab Dis. 2018 Jul 9. doi: 10.1007/s10545-018-0217-9. [Epub ahead of print]

PMID:
29987492
10.

Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study.

Longo N, Zori R, Wasserstein MP, Vockley J, Burton BK, Decker C, Li M, Lau K, Jiang J, Larimore K, Thomas JA.

Orphanet J Rare Dis. 2018 Jul 4;13(1):108. doi: 10.1186/s13023-018-0858-7.

11.

A proposed nosology of inborn errors of metabolism.

Ferreira CR, van Karnebeek CDM, Vockley J, Blau N.

Genet Med. 2019 Jan;21(1):102-106. doi: 10.1038/s41436-018-0022-8. Epub 2018 Jun 8.

12.

Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.

van Kuilenburg ABP, Tarailo-Graovac M, Meijer J, Drogemoller B, Vockley J, Maurer D, Dobritzsch D, Ross CJ, Wasserman W, Meinsma R, Zoetekouw L, van Karnebeek CDM.

Hum Mutat. 2018 Jul;39(7):947-953. doi: 10.1002/humu.23538. Epub 2018 May 10.

PMID:
29691939
13.

Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM).

Thomas J, Levy H, Amato S, Vockley J, Zori R, Dimmock D, Harding CO, Bilder DA, Weng HH, Olbertz J, Merilainen M, Jiang J, Larimore K, Gupta S, Gu Z, Northrup H; PRISM investigators.

Mol Genet Metab. 2018 May;124(1):27-38. doi: 10.1016/j.ymgme.2018.03.006. Epub 2018 Mar 31.

14.

Pegvaliase for the treatment of phenylketonuria: A pivotal, double-blind randomized discontinuation Phase 3 clinical trial.

Harding CO, Amato RS, Stuy M, Longo N, Burton BK, Posner J, Weng HH, Merilainen M, Gu Z, Jiang J, Vockley J; PRISM-2 Investigators.

Mol Genet Metab. 2018 May;124(1):20-26. doi: 10.1016/j.ymgme.2018.03.003. Epub 2018 Mar 18.

15.

Inborn Errors of Metabolism with Myopathy: Defects of Fatty Acid Oxidation and the Carnitine Shuttle System.

El-Gharbawy A, Vockley J.

Pediatr Clin North Am. 2018 Apr;65(2):317-335. doi: 10.1016/j.pcl.2017.11.006. Epub 2017 Dec 28. Review.

PMID:
29502916
16.

Randomized dose-escalation trial of elamipretide in adults with primary mitochondrial myopathy.

Karaa A, Haas R, Goldstein A, Vockley J, Weaver WD, Cohen BH.

Neurology. 2018 Apr 3;90(14):e1212-e1221. doi: 10.1212/WNL.0000000000005255. Epub 2018 Mar 2. Erratum in: Neurology. 2018 Apr 3;90(14 ):669. Neurology. 2018 Nov 20;91(21):986.

17.

Evaluation of mitochondrial bioenergetics, dynamics, endoplasmic reticulum-mitochondria crosstalk, and reactive oxygen species in fibroblasts from patients with complex I deficiency.

Leipnitz G, Mohsen AW, Karunanidhi A, Seminotti B, Roginskaya VY, Markantone DM, Grings M, Mihalik SJ, Wipf P, Van Houten B, Vockley J.

Sci Rep. 2018 Jan 18;8(1):1165. doi: 10.1038/s41598-018-19543-3.

18.

Medium chain acyl-CoA dehydrogenase deficiency in a premature infant.

Dobrowolski SF, Ghaloul-Gonzalez L, Vockley J.

Pediatr Rep. 2017 Nov 21;9(4):7045. doi: 10.4081/pr.2017.7045. eCollection 2017 Nov 21.

19.

Do inborn errors of metabolism confer or impede the risk of diabetes?

Peters V, Vockley J.

J Inherit Metab Dis. 2018 Jan;41(1):1-2. doi: 10.1007/s10545-017-0121-8. No abstract available.

PMID:
29230604
20.

Fasting induces prominent proteomic changes in liver in very long chain Acyl-CoA dehydrogenase deficient mice.

Wang W, Palmfeldt J, Mohsen AW, Gregersen N, Vockley J.

Biochem Biophys Rep. 2016 Sep 17;8:333-339. doi: 10.1016/j.bbrep.2016.08.014. eCollection 2016 Dec.

21.

Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years.

Berry SA, Longo N, Diaz GA, McCandless SE, Smith WE, Harding CO, Zori R, Ficicioglu C, Lichter-Konecki U, Robinson B, Vockley J.

Mol Genet Metab. 2017 Nov;122(3):46-53. doi: 10.1016/j.ymgme.2017.09.002. Epub 2017 Sep 8.

22.

Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial.

Gillingham MB, Heitner SB, Martin J, Rose S, Goldstein A, El-Gharbawy AH, Deward S, Lasarev MR, Pollaro J, DeLany JP, Burchill LJ, Goodpaster B, Shoemaker J, Matern D, Harding CO, Vockley J.

J Inherit Metab Dis. 2017 Nov;40(6):831-843. doi: 10.1007/s10545-017-0085-8. Epub 2017 Sep 4.

PMID:
28871440
23.

UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24weeks of treatment.

Vockley J, Burton B, Berry GT, Longo N, Phillips J, Sanchez-Valle A, Tanpaiboon P, Grunewald S, Murphy E, Humphrey R, Mayhew J, Bowden A, Zhang L, Cataldo J, Marsden DL, Kakkis E.

Mol Genet Metab. 2017 Apr;120(4):370-377. doi: 10.1016/j.ymgme.2017.02.005. Epub 2017 Feb 7.

24.

Investigating the link of ACAD10 deficiency to type 2 diabetes mellitus.

Bloom K, Mohsen AW, Karunanidhi A, El Demellawy D, Reyes-Múgica M, Wang Y, Ghaloul-Gonzalez L, Otsubo C, Tobita K, Muzumdar R, Gong Z, Tas E, Basu S, Chen J, Bennett M, Hoppel C, Vockley J.

J Inherit Metab Dis. 2018 Jan;41(1):49-57. doi: 10.1007/s10545-017-0013-y. Epub 2017 Jan 24.

25.

Nutritional interventions in primary mitochondrial disorders: Developing an evidence base.

Camp KM, Krotoski D, Parisi MA, Gwinn KA, Cohen BH, Cox CS, Enns GM, Falk MJ, Goldstein AC, Gopal-Srivastava R, Gorman GS, Hersh SP, Hirano M, Hoffman FA, Karaa A, MacLeod EL, McFarland R, Mohan C, Mulberg AE, Odenkirchen JC, Parikh S, Rutherford PJ, Suggs-Anderson SK, Tang WH, Vockley J, Wolfe LA, Yannicelli S, Yeske PE, Coates PM.

Mol Genet Metab. 2016 Nov;119(3):187-206. doi: 10.1016/j.ymgme.2016.09.002. Epub 2016 Sep 20. Review.

26.

Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders.

Vockley J, Charrow J, Ganesh J, Eswara M, Diaz GA, McCracken E, Conway R, Enns GM, Starr J, Wang R, Abdenur JE, Sanchez-de-Toledo J, Marsden DL.

Mol Genet Metab. 2016 Nov;119(3):223-231. doi: 10.1016/j.ymgme.2016.08.008. Epub 2016 Aug 27.

27.

Postnatal Pancraniosynostosis in a Patient With Infantile Hypophosphatasia.

Nahabet EH, Gatherwright J, Vockley J, Henderson N, Tomei KL, Grigorian AP, Kaminski B, Bass N, Selman WR, Lakin GE.

Cleft Palate Craniofac J. 2016 Nov;53(6):741-744. Epub 2015 Jul 14.

PMID:
26171568
28.

Neurometabolic Disorders: Potentially Treatable Abnormalities in Patients With Treatment-Refractory Depression and Suicidal Behavior.

Pan LA, Martin P, Zimmer T, Segreti AM, Kassiff S, McKain BW, Baca CA, Rengasamy M, Hyland K, Walano N, Steinfeld R, Hughes M, Dobrowolski SK, Pasquino M, Diler R, Perel J, Finegold DN, Peters DG, Naviaux RK, Brent DA, Vockley J.

Am J Psychiatry. 2017 Jan 1;174(1):42-50. doi: 10.1176/appi.ajp.2016.15111500. Epub 2016 Aug 13.

PMID:
27523499
29.

221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.

Bentler K, Zhai S, Elsbecker SA, Arnold GL, Burton BK, Vockley J, Cameron CA, Hiner SJ, Edick MJ, Berry SA; Inborn Errors of Metabolism Collaborative.

Mol Genet Metab. 2016 Sep;119(1-2):75-82. doi: 10.1016/j.ymgme.2016.07.002. Epub 2016 Jul 15.

30.

Metformin inhibits Branched Chain Amino Acid (BCAA) derived ketoacidosis and promotes metabolic homeostasis in MSUD.

S Sonnet D, N O'Leary M, A Gutierrez M, M Nguyen S, Mateen S, Hsu Y, P Mitchell K, J Lopez A, Vockley J, K Kennedy B, Ramanathan A.

Sci Rep. 2016 Jul 4;6:28775. doi: 10.1038/srep28775.

31.

Mitochondrial respiratory chain disorders in the Old Order Amish population.

Ghaloul-Gonzalez L, Goldstein A, Walsh Vockley C, Dobrowolski SF, Biery A, Irani A, Ibarra J, Morton DH, Mohsen AW, Vockley J.

Mol Genet Metab. 2016 Aug;118(4):296-303. doi: 10.1016/j.ymgme.2016.06.005. Epub 2016 Jun 16.

PMID:
27344355
32.

Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.

Kane MS, Vilboux T, Wolfe LA, Lee PR, Wang Y, Huddleston KC, Vockley JG, Niederhuber JE, Solomon BD.

Brain. 2016 Sep;139(Pt 9):e52. doi: 10.1093/brain/aww135. Epub 2016 Jun 24. No abstract available.

33.

Parent-of-origin-specific signatures of de novo mutations.

Goldmann JM, Wong WS, Pinelli M, Farrah T, Bodian D, Stittrich AB, Glusman G, Vissers LE, Hoischen A, Roach JC, Vockley JG, Veltman JA, Solomon BD, Gilissen C, Niederhuber JE.

Nat Genet. 2016 Aug;48(8):935-9. doi: 10.1038/ng.3597. Epub 2016 Jun 20. Erratum in: Nat Genet. 2018 Nov;50(11):1615.

PMID:
27322544
34.

Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.

Pena LD, van Calcar SC, Hansen J, Edick MJ, Walsh Vockley C, Leslie N, Cameron C, Mohsen AW, Berry SA, Arnold GL, Vockley J; IBEMC.

Mol Genet Metab. 2016 Aug;118(4):272-81. doi: 10.1016/j.ymgme.2016.05.007. Epub 2016 May 13.

35.

Abnormal lipid processing but normal long-term repopulation potential of myc-/- hepatocytes.

Edmunds LR, Otero PA, Sharma L, D'Souza S, Dolezal JM, David S, Lu J, Lamm L, Basantani M, Zhang P, Sipula IJ, Li L, Zeng X, Ding Y, Ding F, Beck ME, Vockley J, Monga SP, Kershaw EE, O'Doherty RM, Kratz LE, Yates NA, Goetzman EP, Scott D, Duncan AW, Prochownik EV.

Oncotarget. 2016 May 24;7(21):30379-95. doi: 10.18632/oncotarget.8856.

36.

Using Incomplete Trios to Boost Confidence in Family Based Association Studies.

Dhankani V, Gibbs DL, Knijnenburg T, Kramer R, Vockley J, Niederhuber J, Shmulevich I, Bernard B.

Front Genet. 2016 Mar 18;7:34. doi: 10.3389/fgene.2016.00034. eCollection 2016.

37.

Liver transplantation for maple syrup urine disease: A global domino effect.

Celik N, Squires RH, Vockley J, Sindhi R, Mazariegos G.

Pediatr Transplant. 2016 May;20(3):350-1. doi: 10.1111/petr.12697. No abstract available.

PMID:
27038300
38.

Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System.

Forsyth R, Vockley CW, Edick MJ, Cameron CA, Hiner SJ, Berry SA, Vockley J, Arnold GL; Inborn Errors of Metabolism Collaborative.

Mol Genet Metab. 2016 May;118(1):15-20. doi: 10.1016/j.ymgme.2016.02.002. Epub 2016 Feb 15.

39.

Unique plasma metabolomic signatures of individuals with inherited disorders of long-chain fatty acid oxidation.

McCoin CS, Piccolo BD, Knotts TA, Matern D, Vockley J, Gillingham MB, Adams SH.

J Inherit Metab Dis. 2016 May;39(3):399-408. doi: 10.1007/s10545-016-9915-3. Epub 2016 Feb 23.

40.

DNA methylation in the pathophysiology of hyperphenylalaninemia in the PAH(enu2) mouse model of phenylketonuria.

Dobrowolski SF, Lyons-Weiler J, Spridik K, Vockley J, Skvorak K, Biery A.

Mol Genet Metab. 2016 Sep;119(1-2):1-7. doi: 10.1016/j.ymgme.2016.01.001. Epub 2016 Jan 14.

PMID:
26822703
41.

New observations on maternal age effect on germline de novo mutations.

Wong WS, Solomon BD, Bodian DL, Kothiyal P, Eley G, Huddleston KC, Baker R, Thach DC, Iyer RK, Vockley JG, Niederhuber JE.

Nat Commun. 2016 Jan 19;7:10486. doi: 10.1038/ncomms10486.

42.

Possible Phenylacetate Hepatotoxicity During 4-Phenylbutyrate Therapy of Byler Disease.

Shneider BL, Morris A, Vockley J.

J Pediatr Gastroenterol Nutr. 2016 Mar;62(3):424-8. doi: 10.1097/MPG.0000000000001082.

PMID:
26756876
43.

Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective Care.

Khromykh A, Solomon BD, Bodian DL, Leon EL, Iyer RK, Baker RL, Ascher DP, Baveja R, Vockley JG, Niederhuber JE.

Mol Syndromol. 2015 Sep;6(3):141-6. doi: 10.1159/000433621. Epub 2015 Jul 3.

44.

CloudForest: A Scalable and Efficient Random Forest Implementation for Biological Data.

Bressler R, Kreisberg RB, Bernard B, Niederhuber JE, Vockley JG, Shmulevich I, Knijnenburg TA.

PLoS One. 2015 Dec 17;10(12):e0144820. doi: 10.1371/journal.pone.0144820. eCollection 2015.

45.

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts.

Staufner C, Haack TB, Köpke MG, Straub BK, Kölker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Lenz D, Kühr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Ozolek JA, Zschocke J, Kuster A, Dick A, Das AM, Wieland T, Terrile C, Strom TM, Meitinger T, Prokisch H, Hoffmann GF.

J Inherit Metab Dis. 2016 Jan;39(1):3-16. doi: 10.1007/s10545-015-9896-7. Epub 2015 Nov 5.

PMID:
26541327
46.

Precision medicine in the age of big data: The present and future role of large-scale unbiased sequencing in drug discovery and development.

Vicini P, Fields O, Lai E, Litwack ED, Martin AM, Morgan TM, Pacanowski MA, Papaluca M, Perez OD, Ringel MS, Robson M, Sakul H, Vockley J, Zaks T, Dolsten M, Søgaard M.

Clin Pharmacol Ther. 2016 Feb;99(2):198-207. doi: 10.1002/cpt.293. Epub 2015 Dec 19. Review.

PMID:
26536838
47.

Systematic evaluation of underlying defects in DNA repair as an approach to case-only assessment of familial prostate cancer.

Nicolas E, Arora S, Zhou Y, Serebriiskii IG, Andrake MD, Handorf ED, Bodian DL, Vockley JG, Dunbrack RL, Ross EA, Egleston BL, Hall MJ, Golemis EA, Giri VN, Daly MB.

Oncotarget. 2015 Nov 24;6(37):39614-33. doi: 10.18632/oncotarget.5554.

48.

Genetic Variants That Predispose to DNA Double-Strand Breaks in Lymphocytes From a Subset of Patients With Familial Colorectal Carcinomas.

Arora S, Yan H, Cho I, Fan HY, Luo B, Gai X, Bodian DL, Vockley JG, Zhou Y, Handorf EA, Egleston BL, Andrake MD, Nicolas E, Serebriiskii IG, Yen TJ, Hall MJ, Golemis EA, Enders GH.

Gastroenterology. 2015 Dec;149(7):1872-1883.e9. doi: 10.1053/j.gastro.2015.08.052. Epub 2015 Sep 5.

49.

Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates.

Bodian DL, Klein E, Iyer RK, Wong WS, Kothiyal P, Stauffer D, Huddleston KC, Gaither AD, Remsburg I, Khromykh A, Baker RL, Maxwell GL, Vockley JG, Niederhuber JE, Solomon BD.

Genet Med. 2016 Mar;18(3):221-30. doi: 10.1038/gim.2015.111. Epub 2015 Sep 3.

PMID:
26334177
50.

Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials.

Nagamani SC, 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 2nd, Wong D, Coakley DF, Scharschmidt BF, Dickinson K, Marino M, Lee BH, Mokhtarani M.

Mol Genet Metab. 2015 Sep-Oct;116(1-2):29-34. doi: 10.1016/j.ymgme.2015.08.002. Epub 2015 Aug 5.

Supplemental Content

Loading ...
Support Center