Enns GM - Search Results

1

Diagnostic challenges and disease management in patients with a mild Zellweger spectrum disorder phenotype.

Enns GM, Ammous Z, Himes RW, Nogueira J, Palle S, Sullivan M, Ramirez C. Enns GM, et al. Mol Genet Metab. 2021 Nov;134(3):217-222. doi: 10.1016/j.ymgme.2021.09.007. Epub 2021 Sep 27. Mol Genet Metab. 2021. PMID: 34625341 Free article. Review.

2

Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

Kripps K, Nakayuenyongsuk W, Shayota BJ, Berquist W, Gomez-Ospina N, Esquivel CO, Concepcion W, Sampson JB, Cristin DJ, Jackson WE, Gilliland S, Pomfret EA, Kueht ML, Pettit RW, Sherif YA, Emrick LT, Elsea SH, Himes R, Hirano M, Van Hove JLK, Scaglia F, Enns GM, Larson AA. Kripps K, et al. Among authors: enns gm. Mol Genet Metab. 2020 May;130(1):58-64. doi: 10.1016/j.ymgme.2020.03.001. Epub 2020 Mar 6. Mol Genet Metab. 2020. PMID: 32173240 Free PMC article.

3

Perspectives on urea cycle disorder management: Results of a clinician survey.

Enns GM, Porter MH, Francis-Sedlak M, Burdett A, Vockley J. Enns GM, et al. Mol Genet Metab. 2019 Sep-Oct;128(1-2):102-108. doi: 10.1016/j.ymgme.2019.07.009. Epub 2019 Jul 18. Mol Genet Metab. 2019. PMID: 31377149 Free article.

4

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. Vockley J, et al. Among authors: enns gm. Mol Genet Metab. 2016 Nov;119(3):223-231. doi: 10.1016/j.ymgme.2016.08.008. Epub 2016 Aug 27. Mol Genet Metab. 2016. PMID: 27590926 Free PMC article.

5

Response to triheptanoin therapy in critically ill patients with LC-FAOD: Report of patients treated through an expanded access program.

Vockley J, Enns GM, Ramirez AN, Bedrosian CL, Reineking B, Lu X, Ray K, Rahman S, Marsden D. Vockley J, et al. Among authors: enns gm. Mol Genet Metab. 2022 Jun;136(2):152-162. doi: 10.1016/j.ymgme.2022.04.001. Epub 2022 Apr 11. Mol Genet Metab. 2022. PMID: 35459555 Free article.

6

Correction of hyperleucinemia in MSUD patients on leucine-free dietary therapy.

Scott AI, Cusmano-Ozog K, Enns GM, Cowan TM. Scott AI, et al. Among authors: enns gm. Mol Genet Metab. 2017 Dec;122(4):156-159. doi: 10.1016/j.ymgme.2017.09.012. Epub 2017 Oct 5. Mol Genet Metab. 2017. PMID: 29032949

7

Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies.

Hintz SR, Matern D, Strauss A, Bennett MJ, Hoyme HE, Schelley S, Kobori J, Colby C, Lehman NL, Enns GM. Hintz SR, et al. Among authors: enns gm. Mol Genet Metab. 2002 Feb;75(2):120-7. doi: 10.1006/mgme.2001.3282. Mol Genet Metab. 2002. PMID: 11855930

8

Initial experience in the treatment of inherited mitochondrial disease with EPI-743.

Enns GM, Kinsman SL, Perlman SL, Spicer KM, Abdenur JE, Cohen BH, Amagata A, Barnes A, Kheifets V, Shrader WD, Thoolen M, Blankenberg F, Miller G. Enns GM, et al. Mol Genet Metab. 2012 Jan;105(1):91-102. doi: 10.1016/j.ymgme.2011.10.009. Epub 2011 Oct 21. Mol Genet Metab. 2012. PMID: 22115768 Free article. Clinical Trial.

9

Prenatal treatment of ornithine transcarbamylase deficiency.

Wilnai Y, Blumenfeld YJ, Cusmano K, Hintz SR, Alcorn D, Benitz WE, Berquist WE, Bernstein JA, Castillo RO, Concepcion W, Cowan TM, Cox KL, Lyell DJ, Esquivel CO, Homeyer M, Hudgins L, Hurwitz M, Palma JP, Schelley S, Akula VP, Summar ML, Enns GM. Wilnai Y, et al. Among authors: enns gm. Mol Genet Metab. 2018 Mar;123(3):297-300. doi: 10.1016/j.ymgme.2018.01.004. Epub 2018 Jan 16. Mol Genet Metab. 2018. PMID: 29396029

10

Profound neonatal lactic acidosis and renal tubulopathy in a patient with glycogen storage disease type IXɑ2 secondary to a de novo pathogenic variant in PHKA2.

Morales JA, Tise CG, Narang A, Grimm PC, Enns GM, Lee CU. Morales JA, et al. Among authors: enns gm. Mol Genet Metab Rep. 2021 May 1;27:100765. doi: 10.1016/j.ymgmr.2021.100765. eCollection 2021 Jun. Mol Genet Metab Rep. 2021. PMID: 34277355 Free PMC article.

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