Mitchell GA - Search Results

1

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. Among authors: mitchell ga. JIMD Rep. 2016;29:19-32. doi: 10.1007/8904_2015_517. Epub 2015 Nov 26. JIMD Rep. 2016. PMID: 26608391 Free PMC article.

2

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. Among authors: mitchell ga. JIMD Rep. 2015;22:67-75. doi: 10.1007/8904_2015_413. Epub 2015 Mar 12. JIMD Rep. 2015. PMID: 25762494 Free PMC article.

3

Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development.

Shelihan I, Rossignol E, Décarie JC, Bonnefont JP, Brivet M, Brunel-Guitton C, Mitchell GA. Shelihan I, et al. Among authors: mitchell ga. JIMD Rep. 2021 Sep 29;63(1):3-10. doi: 10.1002/jmd2.12243. eCollection 2022 Jan. JIMD Rep. 2021. PMID: 35028265 Free PMC article.

4

Treatment of cobalamin C (cblC) deficiency during pregnancy.

Brunel-Guitton C, Costa T, Mitchell GA, Lambert M. Brunel-Guitton C, et al. Among authors: mitchell ga. 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

5

Long-term visual outcome of methylmalonic aciduria and homocystinuria, cobalamin C type.

Gizicki R, Robert MC, Gómez-López L, Orquin J, Decarie JC, Mitchell GA, Roy MS, Ospina LH. Gizicki R, et al. Among authors: mitchell ga. Ophthalmology. 2014 Jan;121(1):381-386. doi: 10.1016/j.ophtha.2013.08.034. Epub 2013 Oct 11. Ophthalmology. 2014. PMID: 24126030

6

Inborn errors of cytoplasmic triglyceride metabolism.

Wu JW, Yang H, Wang SP, Soni KG, Brunel-Guitton C, Mitchell GA. Wu JW, et al. Among authors: mitchell ga. 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.

7

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. Among authors: mitchell ga. 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.

8

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. Among authors: mitchell ga. 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.

9

Reply.

Ghaddhab C, Morin C, Brunel-Guitton C, Mitchell GA, Van Vliet G, Huot C. Ghaddhab C, et al. Among authors: mitchell ga. J Pediatr. 2017 Aug;187:334-335. doi: 10.1016/j.jpeds.2017.04.067. Epub 2017 May 24. J Pediatr. 2017. PMID: 28550952 No abstract available.

10

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. Among authors: mitchell ga. 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

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