Melançon S - 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. Among authors: melancon s. 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

Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec.

Larochelle J, Alvarez F, Bussières JF, Chevalier I, Dallaire L, Dubois J, Faucher F, Fenyves D, Goodyer P, Grenier A, Holme E, Laframboise R, Lambert M, Lindstedt S, Maranda B, Melançon S, Merouani A, Mitchell J, Parizeault G, Pelletier L, Phan V, Rinaldo P, Scott CR, Scriver C, Mitchell GA. Larochelle J, et al. Among authors: melancon s. Mol Genet Metab. 2012 Sep;107(1-2):49-54. doi: 10.1016/j.ymgme.2012.05.022. Epub 2012 Jul 13. Mol Genet Metab. 2012. PMID: 22885033

3

[Hypocarnitinemia in patients affected by a primary defect of ammonia metabolism treated with sodium benzoate].

Michalak A, Lambert MA, Dallaire L, Melançon SB, Laframboise R, Lemieux B, Qureshi IA. Michalak A, et al. Among authors: melancon sb. Diabete Metab. 1990 May-Jun;16(3):226-33. Diabete Metab. 1990. PMID: 2210018 French.

4

Prenatal diagnosis of Smith-Lemli-Opitz syndrome is possible by measurement of 7-dehydrocholesterol in amniotic fluid.

Dallaire L, Mitchell G, Giguère R, Lefebvre F, Melançon SB, Lambert M. Dallaire L, et al. Among authors: melancon sb. Prenat Diagn. 1995 Sep;15(9):855-8. doi: 10.1002/pd.1970150911. Prenat Diagn. 1995. PMID: 8559757

5

Chronic sodium benzoate therapy in children with inborn errors of urea synthesis: effect on carnitine metabolism and ammonia nitrogen removal.

Feoli-Fonseca JC, Lambert M, Mitchell G, Melançon SB, Dallaire L, Millington DS, Qureshi IA. Feoli-Fonseca JC, et al. Among authors: melancon sb. Biochem Mol Med. 1996 Feb;57(1):31-6. doi: 10.1006/bmme.1996.0006. Biochem Mol Med. 1996. PMID: 8812724 Clinical Trial.

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. 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

Prenatal diagnosis of fetal anomalies during the second trimester of pregnancy: their characterization and delineation of defects in pregnancies at risk.

Dallaire L, Michaud J, Melancon SB, Potier M, Lambert M, Mitchell G, Boisvert J. Dallaire L, et al. Among authors: melancon sb. Prenat Diagn. 1991 Aug;11(8):629-35. doi: 10.1002/pd.1970110821. Prenat Diagn. 1991. PMID: 1837356

8

Pregnancy of a patient with multiple Acyl-CoA dehydrogenation deficiency (MADD).

Trakadis Y, Kadlubowska D, Barnes R, Mitchell J, Spector E, Frerman F, Melancon S. Trakadis Y, et al. Among authors: melancon s. Mol Genet Metab. 2012 Aug;106(4):491-4. doi: 10.1016/j.ymgme.2012.05.001. Epub 2012 May 17. Mol Genet Metab. 2012. PMID: 22664151

9

Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.

Alfares A, Nunez LD, Al-Thihli K, Mitchell J, Melançon S, Anastasio N, Ha KC, Majewski J, Rosenblatt DS, Braverman N. Alfares A, et al. Among authors: melancon s. J Med Genet. 2011 Sep;48(9):602-5. doi: 10.1136/jmedgenet-2011-100230. Epub 2011 Jul 23. J Med Genet. 2011. PMID: 21785126

10

Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.

Bernard G, Thiffault I, Tetreault M, Putorti ML, Bouchard I, Sylvain M, Melançon S, Laframboise R, Langevin P, Bouchard JP, Vanasse M, Vanderver A, Sébire G, Brais B. Bernard G, et al. Among authors: melancon s. Neurogenetics. 2010 Oct;11(4):457-64. doi: 10.1007/s10048-010-0251-8. Epub 2010 Jul 17. Neurogenetics. 2010. PMID: 20640464 Free PMC article.

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