Enns GM - Search Results

1

Abnormal hepatocellular mitochondria in methylmalonic acidemia.

Wilnai Y, Enns GM, Niemi AK, Higgins J, Vogel H. Wilnai Y, et al. Among authors: enns gm. Ultrastruct Pathol. 2014 Oct;38(5):309-14. doi: 10.3109/01913123.2014.921657. Epub 2014 Jun 16. Ultrastruct Pathol. 2014. PMID: 24933007

2

Treatment of methylmalonic acidemia by liver or combined liver-kidney transplantation.

Niemi AK, Kim IK, Krueger CE, Cowan TM, Baugh N, Farrell R, Bonham CA, Concepcion W, Esquivel CO, Enns GM. Niemi AK, et al. Among authors: enns gm. J Pediatr. 2015 Jun;166(6):1455-61.e1. doi: 10.1016/j.jpeds.2015.01.051. Epub 2015 Mar 11. J Pediatr. 2015. PMID: 25771389

3

Impaired Health-Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia.

Splinter K, Niemi AK, Cox R, Platt J, Shah M, Enns GM, Kasahara M, Bernstein JA. Splinter K, et al. Among authors: enns gm. J Genet Couns. 2016 Oct;25(5):936-44. doi: 10.1007/s10897-015-9921-x. Epub 2015 Dec 14. J Genet Couns. 2016. PMID: 26667650

4

Atypical amyoplasia congenita in an infant with Leigh syndrome: a mitochondrial cause of severe contractures?

Wilnai Y, Seaver LH, Enns GM. Wilnai Y, et al. Among authors: enns gm. Am J Med Genet A. 2012 Sep;158A(9):2353-7. doi: 10.1002/ajmg.a.35533. Epub 2012 Aug 7. Am J Med Genet A. 2012. PMID: 22887355

5

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.

6

Reply: To PMID 25771389.

Niemi AK, Enns GM. Niemi AK, et al. Among authors: enns gm. J Pediatr. 2015 Nov;167(5):1173-4. doi: 10.1016/j.jpeds.2015.08.031. Epub 2015 Sep 9. J Pediatr. 2015. PMID: 26362093 No abstract available.

7

Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine.

Gomez-Ospina N, Scott AI, Oh GJ, Potter D, Goel VV, Destino L, Baugh N, Enns GM, Niemi AK, Cowan TM. Gomez-Ospina N, et al. Among authors: enns gm. J Inherit Metab Dis. 2016 Nov;39(6):821-829. doi: 10.1007/s10545-016-9963-8. Epub 2016 Aug 3. J Inherit Metab Dis. 2016. PMID: 27488560

8

Liver transplantation for urea cycle disorders in pediatric patients: a single-center experience.

Kim IK, Niemi AK, Krueger C, Bonham CA, Concepcion W, Cowan TM, Enns GM, Esquivel CO. Kim IK, et al. Among authors: enns gm. Pediatr Transplant. 2013 Mar;17(2):158-67. doi: 10.1111/petr.12041. Epub 2013 Jan 24. Pediatr Transplant. 2013. PMID: 23347504

9

Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency.

Niemi AK, Brown C, Moore T, Enns GM, Cowan TM. Niemi AK, et al. Among authors: enns gm. Mol Genet Metab Rep. 2014 Apr 1;1:129-132. doi: 10.1016/j.ymgmr.2014.02.005. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896081 Free PMC article.

10

Clinical whole-exome sequencing: are we there yet?

Atwal PS, Brennan ML, Cox R, Niaki M, Platt J, Homeyer M, Kwan A, Parkin S, Schelley S, Slattery L, Wilnai Y, Bernstein JA, Enns GM, Hudgins L. Atwal PS, et al. Among authors: enns gm. Genet Med. 2014 Sep;16(9):717-9. doi: 10.1038/gim.2014.10. Epub 2014 Feb 13. Genet Med. 2014. PMID: 24525916 Free article.

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