Enns GM - Search Results

1

Mapping gene associations in human mitochondria using clinical disease phenotypes.

Scharfe C, Lu HH, Neuenburg JK, Allen EA, Li GC, Klopstock T, Cowan TM, Enns GM, Davis RW. Scharfe C, et al. Among authors: enns gm. PLoS Comput Biol. 2009 Apr;5(4):e1000374. doi: 10.1371/journal.pcbi.1000374. Epub 2009 Apr 24. PLoS Comput Biol. 2009. PMID: 19390613 Free PMC article.

2

High-quality DNA sequence capture of 524 disease candidate genes.

Shen P, Wang W, Krishnakumar S, Palm C, Chi AK, Enns GM, Davis RW, Speed TP, Mindrinos MN, Scharfe C. Shen P, et al. Among authors: enns gm. Proc Natl Acad Sci U S A. 2011 Apr 19;108(16):6549-54. doi: 10.1073/pnas.1018981108. Epub 2011 Apr 5. Proc Natl Acad Sci U S A. 2011. PMID: 21467225 Free PMC article.

3

Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia.

Peng G, Shen P, Gandotra N, Le A, Fung E, Jelliffe-Pawlowski L, Davis RW, Enns GM, Zhao H, Cowan TM, Scharfe C. Peng G, et al. Among authors: enns gm. Genet Med. 2019 Apr;21(4):896-903. doi: 10.1038/s41436-018-0272-5. Epub 2018 Sep 13. Genet Med. 2019. PMID: 30209273 Free PMC article.

4

AMP-independent activator of AMPK for treatment of mitochondrial disorders.

Moore T, Yanes RE, Calton MA, Vollrath D, Enns GM, Cowan TM. Moore T, et al. Among authors: enns gm. PLoS One. 2020 Oct 14;15(10):e0240517. doi: 10.1371/journal.pone.0240517. eCollection 2020. PLoS One. 2020. PMID: 33052980 Free PMC article.

5

Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed.

Gallagher RC, Cowan TM, Goodman SI, Enns GM. Gallagher RC, et al. Among authors: enns gm. Mol Genet Metab. 2005 Nov;86(3):417-20. doi: 10.1016/j.ymgme.2005.08.005. Epub 2005 Sep 23. Mol Genet Metab. 2005. PMID: 16183314

6

Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia.

Atkuri KR, Cowan TM, Kwan T, Ng A, Herzenberg LA, Herzenberg LA, Enns GM. Atkuri KR, et al. Among authors: enns gm. Proc Natl Acad Sci U S A. 2009 Mar 10;106(10):3941-5. doi: 10.1073/pnas.0813409106. Epub 2009 Feb 17. Proc Natl Acad Sci U S A. 2009. PMID: 19223582 Free PMC article.

7

Degree of glutathione deficiency and redox imbalance depend on subtype of mitochondrial disease and clinical status.

Enns GM, Moore T, Le A, Atkuri K, Shah MK, Cusmano-Ozog K, Niemi AK, Cowan TM. Enns GM, et al. PLoS One. 2014 Jun 18;9(6):e100001. doi: 10.1371/journal.pone.0100001. eCollection 2014. PLoS One. 2014. PMID: 24941115 Free PMC article.

8

Acylcarnitine Profiles Reflect Metabolic Vulnerability for Necrotizing Enterocolitis in Newborns Born Premature.

Sylvester KG, Kastenberg ZJ, Moss RL, Enns GM, Cowan TM, Shaw GM, Stevenson DK, Sinclair TJ, Scharfe C, Ryckman KK, Jelliffe-Pawlowski LL. Sylvester KG, et al. Among authors: enns gm. J Pediatr. 2017 Feb;181:80-85.e1. doi: 10.1016/j.jpeds.2016.10.019. Epub 2016 Nov 8. J Pediatr. 2017. PMID: 27836286 Free PMC article.

9

Glutathione as a Redox Biomarker in Mitochondrial Disease-Implications for Therapy.

Enns GM, Cowan TM. Enns GM, et al. J Clin Med. 2017 May 3;6(5):50. doi: 10.3390/jcm6050050. J Clin Med. 2017. PMID: 28467362 Free PMC article. Review.

10

Ethnic variability in newborn metabolic screening markers associated with false-positive outcomes.

Peng G, Tang Y, Gandotra N, Enns GM, Cowan TM, Zhao H, Scharfe C. Peng G, et al. Among authors: enns gm. J Inherit Metab Dis. 2020 Sep;43(5):934-943. doi: 10.1002/jimd.12236. Epub 2020 Apr 17. J Inherit Metab Dis. 2020. PMID: 32216101 Free PMC article.

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