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Page 1
Natural history of propionic acidemia in the Amish population.
Ehrenberg S, Walsh Vockley C, Heiman P, Ammous Z, Wenger O, Vockley J, Ghaloul-Gonzalez L. Ehrenberg S, et al. Among authors: vockley j. Mol Genet Metab Rep. 2022 Nov 5;33:100936. doi: 10.1016/j.ymgmr.2022.100936. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36393899 Free PMC article.
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.
Haack TB, Staufner C, Köpke MG, Straub BK, Kölker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Kühr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Zschocke J, Kremer LS, Graf E, Schwarzmayr T, Bader DM, Gagneur J, Wieland T, Terrile C, Strom TM, Meitinger T, Hoffmann GF, Prokisch H. Haack TB, et al. Among authors: vockley j. Am J Hum Genet. 2015 Jul 2;97(1):163-9. doi: 10.1016/j.ajhg.2015.05.009. Epub 2015 Jun 11. Am J Hum Genet. 2015. PMID: 26073778 Free PMC article.
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. Staufner C, et al. Among authors: vockley j. J Inherit Metab Dis. 2016 Jan;39(1):3-16. doi: 10.1007/s10545-015-9896-7. Epub 2015 Nov 5. J Inherit Metab Dis. 2016. PMID: 26541327
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. Forsyth R, et al. Among authors: vockley cw, vockley j. Mol Genet Metab. 2016 May;118(1):15-20. doi: 10.1016/j.ymgme.2016.02.002. Epub 2016 Feb 15. Mol Genet Metab. 2016. PMID: 27033733 Free PMC article.
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. Pena LD, et al. Among authors: vockley j. Mol Genet Metab. 2016 Aug;118(4):272-81. doi: 10.1016/j.ymgme.2016.05.007. Epub 2016 May 13. Mol Genet Metab. 2016. PMID: 27209629 Free PMC article.
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. Ghaloul-Gonzalez L, et al. Among authors: vockley j. Mol Genet Metab. 2016 Aug;118(4):296-303. doi: 10.1016/j.ymgme.2016.06.005. Epub 2016 Jun 16. Mol Genet Metab. 2016. PMID: 27344355
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. Bloom K, et al. Among authors: vockley j. J Inherit Metab Dis. 2018 Jan;41(1):49-57. doi: 10.1007/s10545-017-0013-y. Epub 2017 Jan 24. J Inherit Metab Dis. 2018. PMID: 28120165 Free PMC article.
361 results