Vernon HJ - Search Results

1

A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut (0) methylmalonic acidemia.

Vernon HJ, Sperati CJ, King JD, Poretti A, Miller NR, Sloan JL, Cameron AM, Myers D, Venditti CP, Valle D. Vernon HJ, et al. J Inherit Metab Dis. 2014 Nov;37(6):899-907. doi: 10.1007/s10545-014-9730-7. Epub 2014 Jun 25. J Inherit Metab Dis. 2014. PMID: 24961826 Free PMC article.

2

Chronic kidney disease in an adult with propionic acidemia.

Vernon HJ, Bagnasco S, Hamosh A, Sperati CJ. Vernon HJ, et al. JIMD Rep. 2014;12:5-10. doi: 10.1007/8904_2013_237. Epub 2013 Jun 12. JIMD Rep. 2014. PMID: 23756992 Free PMC article.

3

Identification and functional studies of regulatory variants responsible for the association of NRG3 with a delusion phenotype in schizophrenia.

Zeledón M, Eckart N, Taub M, Vernon H, Szymanksi M, Wang R, Chen PL, Nestadt G, McGrath JA, Sawa A, Pulver AE, Avramopoulos D, Valle D. Zeledón M, et al. Mol Neuropsychiatry. 2015 May;1(1):36-46. doi: 10.1159/000371518. Epub 2015 Feb 27. Mol Neuropsychiatry. 2015. PMID: 26528484 Free PMC article.

4

The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Pipitone A, Raval DB, Duis J, Vernon H, Martin R, Hamosh A, Valle D, Gunay-Aygun M. Pipitone A, et al. Am J Med Genet A. 2016 Jun;170(6):1600-2. doi: 10.1002/ajmg.a.37620. Epub 2016 Mar 21. Am J Med Genet A. 2016. PMID: 26997609 Free PMC article.

5

FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia.

Manoli I, Sysol JR, Epping MW, Li L, Wang C, Sloan JL, Pass A, Gagné J, Ktena YP, Li L, Trivedi NS, Ouattara B, Zerfas PM, Hoffmann V, Abu-Asab M, Tsokos MG, Kleiner DE, Garone C, Cusmano-Ozog K, Enns GM, Vernon HJ, Andersson HC, Grunewald S, Elkahloun AG, Girard CL, Schnermann J, DiMauro S, Andres-Mateos E, Vandenberghe LH, Chandler RJ, Venditti CP. Manoli I, et al. Among authors: vernon hj. JCI Insight. 2018 Dec 6;3(23):e124351. doi: 10.1172/jci.insight.124351. JCI Insight. 2018. PMID: 30518688 Free PMC article.

6

Expansion of the clinical spectrum associated with AARS2-related disorders.

Srivastava S, Butala A, Mahida S, Richter J, Mu W, Poretti A, Vernon H, VanGerpen J, Atwal PS, Middlebrooks EH, Zee DS, Naidu S. Srivastava S, et al. Am J Med Genet A. 2019 Aug;179(8):1556-1564. doi: 10.1002/ajmg.a.61188. Epub 2019 May 17. Am J Med Genet A. 2019. PMID: 31099476

7

Multi-omics studies in cellular models of methylmalonic acidemia and propionic acidemia reveal dysregulation of serine metabolism.

Anzmann AF, Pinto S, Busa V, Carlson J, McRitchie S, Sumner S, Pandey A, Vernon HJ. Anzmann AF, et al. Among authors: vernon hj. Biochim Biophys Acta Mol Basis Dis. 2019 Dec 1;1865(12):165538. doi: 10.1016/j.bbadis.2019.165538. Epub 2019 Aug 23. Biochim Biophys Acta Mol Basis Dis. 2019. PMID: 31449969 Free PMC article.

8

Noninvasive monitoring of chronic kidney disease using pH and perfusion imaging.

Pavuluri K, Manoli I, Pass A, Li Y, Vernon HJ, Venditti CP, McMahon MT. Pavuluri K, et al. Among authors: vernon hj. Sci Adv. 2019 Aug 14;5(8):eaaw8357. doi: 10.1126/sciadv.aaw8357. eCollection 2019 Aug. Sci Adv. 2019. PMID: 31453331 Free PMC article.

9

Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB-type methylmalonic acidemia.

Agnarsdóttir D, Sigurjónsdóttir VK, Emilsdóttir AR, Petersen E, Sigfússon G, Rögnvaldsson I, Franzson L, Vernon H, Bjornsson HT. Agnarsdóttir D, et al. Mol Genet Genomic Med. 2022 Jul;10(7):e1971. doi: 10.1002/mgg3.1971. Epub 2022 Jun 16. Mol Genet Genomic Med. 2022. PMID: 35712814 Free PMC article.

10

The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post-mortem.

Forsyth R, Peretz RH, Dempsey A, Britton J, Kratz L, Hamosh A, Vernon H, Batshaw ML, Valle D. Forsyth R, et al. JIMD Rep. 2023 Jan 29;64(3):233-237. doi: 10.1002/jmd2.12361. eCollection 2023 May. JIMD Rep. 2023. PMID: 37151362 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

81 results

Search Page

Filters