Enns GM - Search Results

1

Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins.

Enns GM, Steiner RD, Buist N, Cowan C, Leppig KA, McCracken MF, Westphal V, Freeze HH, O'brien JF, Jaeken J, Matthijs G, Behera S, Hudgins L. Enns GM, et al. J Pediatr. 2002 Nov;141(5):695-700. doi: 10.1067/mpd.2002.128658. J Pediatr. 2002. PMID: 12410200

2

Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry.

Westphal V, Enns GM, McCracken MF, Freeze HH. Westphal V, et al. Among authors: enns gm. Mol Genet Metab. 2001 May;73(1):71-6. doi: 10.1006/mgme.2001.3174. Mol Genet Metab. 2001. PMID: 11350185

3

Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum.

Manning MA, Cassidy SB, Clericuzio C, Cherry AM, Schwartz S, Hudgins L, Enns GM, Hoyme HE. Manning MA, et al. Among authors: enns gm. Pediatrics. 2004 Aug;114(2):451-7. doi: 10.1542/peds.114.2.451. Pediatrics. 2004. PMID: 15286229

4

Congenital disorder of glycosylation Ic in patients of Indian origin.

Newell JW, Seo NS, Enns GM, McCraken M, Mantovani JF, Freeze HH. Newell JW, et al. Among authors: enns gm. Mol Genet Metab. 2003 Jul;79(3):221-8. doi: 10.1016/s1096-7192(03)00089-1. Mol Genet Metab. 2003. PMID: 12855228

5

A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts.

He P, Grotzke JE, Ng BG, Gunel M, Jafar-Nejad H, Cresswell P, Enns GM, Freeze HH. He P, et al. Among authors: enns gm. Glycobiology. 2015 Aug;25(8):836-44. doi: 10.1093/glycob/cwv024. Epub 2015 Apr 21. Glycobiology. 2015. PMID: 25900930 Free PMC article.

6

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients.

Moravej H, Altassan R, Jaeken J, Enns GM, Ellaway C, Balasubramaniam S, De Lonlay P, Coman D, Mercimek-Andrews S, Witters P, Morava E. Moravej H, et al. Among authors: enns gm. JIMD Rep. 2019 Nov 25;51(1):76-81. doi: 10.1002/jmd2.12085. eCollection 2020 Jan. JIMD Rep. 2019. PMID: 32071842 Free PMC article.

7

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.

Enns GM, Shashi V, Bainbridge M, Gambello MJ, Zahir FR, Bast T, Crimian R, Schoch K, Platt J, Cox R, Bernstein JA, Scavina M, Walter RS, Bibb A, Jones M, Hegde M, Graham BH, Need AC, Oviedo A, Schaaf CP, Boyle S, Butte AJ, Chen R, Chen R, Clark MJ, Haraksingh R; FORGE Canada Consortium; Cowan TM, He P, Langlois S, Zoghbi HY, Snyder M, Gibbs RA, Freeze HH, Goldstein DB. Enns GM, et al. Genet Med. 2014 Oct;16(10):751-8. doi: 10.1038/gim.2014.22. Epub 2014 Mar 20. Genet Med. 2014. PMID: 24651605 Free PMC article.

8

Prenatally Diagnosed Cases of Binder Phenotype Complicated by Respiratory Distress in the Immediate Postnatal Period.

Blumenfeld YJ, Davis AS, Hintz SR, Milan K, Messner AH, Barth RA, Hudgins L, Chueh J, Homeyer M, Bernstein JA, Enns G, Atwal P, Manning M. Blumenfeld YJ, et al. J Ultrasound Med. 2016 Jun;35(6):1353-8. doi: 10.7863/ultra.15.02050. Epub 2016 May 9. J Ultrasound Med. 2016. PMID: 27162279

9

Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.

Enns GM, Bennett MJ, Hoppel CL, Goodman SI, Weisiger K, Ohnstad C, Golabi M, Packman S. Enns GM, et al. J Pediatr. 2000 Feb;136(2):251-4. doi: 10.1016/s0022-3476(00)70111-9. J Pediatr. 2000. PMID: 10657835

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.

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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

176 results

Search Page