Mitchell GA - Search Results

1

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

2

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.

3

LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.

Debray FG, Morin C, Janvier A, Villeneuve J, Maranda B, Laframboise R, Lacroix J, Decarie JC, Robitaille Y, Lambert M, Robinson BH, Mitchell GA. Debray FG, et al. Among authors: mitchell ga. J Med Genet. 2011 Mar;48(3):183-9. doi: 10.1136/jmg.2010.081976. Epub 2011 Jan 25. J Med Genet. 2011. PMID: 21266382

4

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.

5

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.

6

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

7

Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean.

Morin C, Mitchell G, Larochelle J, Lambert M, Ogier H, Robinson BH, De Braekeleer M. Morin C, et al. Am J Hum Genet. 1993 Aug;53(2):488-96. Am J Hum Genet. 1993. PMID: 8392291 Free PMC article.

8

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.

9

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.

10

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.

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