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Results: 1-11 |
Results: 11
Functional significance of PMM2 mutations in mildly affected patients withcongenital disorders of glycosylation Ia
Authors: Westphal, V Peterson, S Patterson, M Tournay, A Blumenthal, A Treacy, EP Freeze, HH
Citation: V. Westphal et al., Functional significance of PMM2 mutations in mildly affected patients withcongenital disorders of glycosylation Ia, GENET MED, 3(6), 2001, pp. 393-398
In vivo variability of TMA oxidation is partially mediated by polymorphisms of the FMO3 gene
Authors: Lambert, DM Mamer, OA Akerman, BR Choiniere, L Gaudet, D Hamet, P Treacy, EP
Citation: Dm. Lambert et al., In vivo variability of TMA oxidation is partially mediated by polymorphisms of the FMO3 gene, MOL GEN MET, 73(3), 2001, pp. 224-229
A novel deletion in the flavin-containing monooxygenase gene (FMO3) in a Greek patient with trimethylaminuria
Authors: Forrest, SM Knight, M Akerman, BR Cashman, JR Treacy, EP
Citation: Sm. Forrest et al., A novel deletion in the flavin-containing monooxygenase gene (FMO3) in a Greek patient with trimethylaminuria, PHARMACOGEN, 11(2), 2001, pp. 169-174
Variable onset of metachromatic leukodystrophy in a Vietnamese family
Authors: Arbour, LT Silver, K Hechtman, P Treacy, EP Coulter-Mackie, MB
Citation: Lt. Arbour et al., Variable onset of metachromatic leukodystrophy in a Vietnamese family, PED NEUROL, 23(2), 2000, pp. 173-176
Population-specific polymorphisms of the human FMO3 gene: Significance fordetoxication
Authors: Cashman, JR Akerman, BR Forrest, SM Treacy, EP
Citation: Jr. Cashman et al., Population-specific polymorphisms of the human FMO3 gene: Significance fordetoxication, DRUG META D, 28(2), 2000, pp. 169-173
Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study
Authors: Treacy, EP Lambert, DM Barnes, R Boriack, RL Vockley, J O'Brien, LK Jones, PM Bennett, MJ
Citation: Ep. Treacy et al., Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study, J PEDIAT, 137(2), 2000, pp. 257-259
Is there treatment for "genetic" disease?
Authors: Scriver, CR Treacy, EP
Citation: Cr. Scriver et Ep. Treacy, Is there treatment for "genetic" disease?, MOL GEN MET, 68(2), 1999, pp. 93-102
Trimethylaminuria is caused by mutations of the FMO3 gene in a North American cohort
Authors: Akerman, BR Lemass, H Chow, LML Lambert, DM Greenberg, C Bibeau, C Mamer, OA Treacy, EP
Citation: Br. Akerman et al., Trimethylaminuria is caused by mutations of the FMO3 gene in a North American cohort, MOL GEN MET, 68(1), 1999, pp. 24-31
Two novel mutations of the FMO3 gene in a proband with trimethylaminuria
Authors: Akerman, BR Forrest, S Chow, L Youil, R Knight, M Treacy, EP
Citation: Br. Akerman et al., Two novel mutations of the FMO3 gene in a proband with trimethylaminuria, HUM MUTAT, 13(5), 1999, pp. 376-379
Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program
Authors: Sniderman, LC Lambert, M Giguere, R Auray-Blais, C Lemieux, B Laframboise, R Rosenblatt, DS Treacy, EP
Citation: Lc. Sniderman et al., Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program, J PEDIAT, 134(6), 1999, pp. 675-680
Measurement of trimethylamine and trimethylamine N-oxide independently in urine by fast atom bombardment mass spectrometry
Authors: Mamer, OA Choiniere, L Treacy, EP
Citation: Oa. Mamer et al., Measurement of trimethylamine and trimethylamine N-oxide independently in urine by fast atom bombardment mass spectrometry, ANALYT BIOC, 276(2), 1999, pp. 144-149
Risultati: 1-11 |