Brunel-Guitton C - Search Results

1

Québec NTBC Study Group; Alvarez F, Atkinson S, Bouchard M, Brunel-Guitton C, Buhas D, Bussières JF, Dubois J, Fenyves D, Goodyer P, Gosselin M, Halac U, Labbé P, Laframboise R, Maranda B, Melançon S, Merouani A, Mitchell GA, Mitchell J, Parizeault G, Pelletier L, Phan V, Turcotte JF. Québec NTBC Study Group, et al. Adv Exp Med Biol. 2017;959:187-195. doi: 10.1007/978-3-319-55780-9_17. Adv Exp Med Biol. 2017. PMID: 28755196 Review.

2

Enzyme replacement therapy in pediatric patients with Gaucher disease: what should we use as maintenance dosage?

Brunel-Guitton C, Rivard GE, Galipeau J, Alos N, Miron MC, Therrien R, Mitchell G, Lapierre G, Lambert M. Brunel-Guitton C, et al. Mol Genet Metab. 2009 Feb;96(2):73-6. doi: 10.1016/j.ymgme.2008.11.158. Epub 2008 Dec 10. Mol Genet Metab. 2009. PMID: 19083253

3

Treatment of cobalamin C (cblC) deficiency during pregnancy.

Brunel-Guitton C, Costa T, Mitchell GA, Lambert M. Brunel-Guitton C, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S409-12. doi: 10.1007/s10545-010-9202-7. Epub 2010 Sep 10. J Inherit Metab Dis. 2010. PMID: 20830523

4

Inborn errors of cytoplasmic triglyceride metabolism.

Wu JW, Yang H, Wang SP, Soni KG, Brunel-Guitton C, Mitchell GA. Wu JW, et al. J Inherit Metab Dis. 2015 Jan;38(1):85-98. doi: 10.1007/s10545-014-9767-7. Epub 2014 Oct 10. J Inherit Metab Dis. 2015. PMID: 25300978 Review.

5

Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy.

Levtova A, Camuzeaux S, Laberge AM, Allard P, Brunel-Guitton C, Diadori P, Rossignol E, Hyland K, Clayton PT, Mills PB, Mitchell GA. Levtova A, et al. JIMD Rep. 2015;22:67-75. doi: 10.1007/8904_2015_413. Epub 2015 Mar 12. JIMD Rep. 2015. PMID: 25762494 Free PMC article.

6

A Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC Defect.

Bellerose J, Neugnot-Cerioli M, Bédard K, Brunel-Guitton C, Mitchell GA, Ospina LH, Beauchamp MH. Bellerose J, et al. JIMD Rep. 2016;29:19-32. doi: 10.1007/8904_2015_517. Epub 2015 Nov 26. JIMD Rep. 2016. PMID: 26608391 Free PMC article.

7

Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests.

Sasarman F, Maftei C, Campeau PM, Brunel-Guitton C, Mitchell GA, Allard P. Sasarman F, et al. J Inherit Metab Dis. 2016 Mar;39(2):173-88. doi: 10.1007/s10545-015-9903-z. Epub 2015 Dec 21. J Inherit Metab Dis. 2016. PMID: 26689402 Review.

8

Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency.

Yang H, Al-Hertani W, Cyr D, Laframboise R, Parizeault G, Wang SP, Rossignol F, Berthier MT, Giguère Y, Waters PJ, Mitchell GA; Québec NTBC Study Group. Yang H, et al. J Med Genet. 2017 Apr;54(4):241-247. doi: 10.1136/jmedgenet-2016-104289. Epub 2016 Nov 22. J Med Genet. 2017. PMID: 27876694

9

Premature Ovarian Failure in French Canadian Leigh Syndrome.

Ghaddhab C, Morin C, Brunel-Guitton C, Mitchell GA, Van Vliet G, Huot C. Ghaddhab C, et al. J Pediatr. 2017 May;184:227-229.e1. doi: 10.1016/j.jpeds.2017.02.008. Epub 2017 Mar 8. J Pediatr. 2017. PMID: 28284481

10

Atypical juvenile presentation of G_M2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene.

Martins C, Brunel-Guitton C, Lortie A, Gauvin F, Morales CR, Mitchell GA, Pshezhetsky AV. Martins C, et al. Mol Genet Metab Rep. 2017 Apr 7;11:24-29. doi: 10.1016/j.ymgmr.2017.01.017. eCollection 2017 Jun. Mol Genet Metab Rep. 2017. PMID: 28417072 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

34 results

Search Page

Filters