Laframboise R - Search Results

1

Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.

Levtova A, Waters PJ, Buhas D, Lévesque S, Auray-Blais C, Clarke JTR, Laframboise R, Maranda B, Mitchell GA, Brunel-Guitton C, Braverman NE. Levtova A, et al. Among authors: laframboise r. J Inherit Metab Dis. 2019 Jan;42(1):107-116. doi: 10.1002/jimd.12032. J Inherit Metab Dis. 2019. PMID: 30740739

2

Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program.

Sniderman LC, Lambert M, Giguère R, Auray-Blais C, Lemieux B, Laframboise R, Rosenblatt DS, Treacy EP. Sniderman LC, et al. Among authors: laframboise r. J Pediatr. 1999 Jun;134(6):675-80. doi: 10.1016/s0022-3476(99)70280-5. J Pediatr. 1999. PMID: 10356133

3

The Québec NTBC Study.

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. Among authors: laframboise r. 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.

4

Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles.

Yang H, Rossignol F, Cyr D, Laframboise R, Wang SP, Soucy JF, Berthier MT, Giguère Y, Waters PJ, Mitchell GA; Québec NTBC Study Group. Yang H, et al. Among authors: laframboise r. Mol Genet Metab Rep. 2017 Dec 27;14:55-58. doi: 10.1016/j.ymgmr.2017.12.002. eCollection 2018 Mar. Mol Genet Metab Rep. 2017. PMID: 29326876 Free PMC article.

5

Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15.

Debray FG, Lambert M, Lemieux B, Soucy JF, Drouin R, Fenyves D, Dubé J, Maranda B, Laframboise R, Mitchell GA. Debray FG, et al. Among authors: laframboise r. J Med Genet. 2008 Nov;45(11):759-64. doi: 10.1136/jmg.2008.059097. J Med Genet. 2008. PMID: 18978333 Free article.

6

Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease.

Auray-Blais C, Cyr D, Ntwari A, West ML, Cox-Brinkman J, Bichet DG, Germain DP, Laframboise R, Melançon SB, Stockley T, Clarke JT, Drouin R. Auray-Blais C, et al. Among authors: laframboise r. Mol Genet Metab. 2008 Mar;93(3):331-40. doi: 10.1016/j.ymgme.2007.10.001. Epub 2007 Nov 26. Mol Genet Metab. 2008. PMID: 18023222

7

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. Among authors: laframboise r. 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

8

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: laframboise r. 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

9

Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience.

Carter KC, Byck S, Waters PJ, Richards B, Nowacki PM, Laframboise R, Lambert M, Treacy E, Scriver CR. Carter KC, et al. Among authors: laframboise r. Eur J Hum Genet. 1998 Jan;6(1):61-70. doi: 10.1038/sj.ejhg.5200153. Eur J Hum Genet. 1998. PMID: 9781015

10

Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia.

Debray FG, Lambert M, Gagne R, Maranda B, Laframboise R, MacKay N, Robinson BH, Mitchell GA. Debray FG, et al. Among authors: laframboise r. Neuropediatrics. 2008 Feb;39(1):20-3. doi: 10.1055/s-2008-1077084. Neuropediatrics. 2008. PMID: 18504677 Free article.

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