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Results: 1-19 |
Results: 19
Carnitine transport by organic cation transporters and systemic carnitine deficiency
Authors: Lahjouji, K Mitchell, GA Qureshi, IA
Citation: K. Lahjouji et al., Carnitine transport by organic cation transporters and systemic carnitine deficiency, MOL GEN MET, 73(4), 2001, pp. 287-297
Tyrosinemia: A review
Authors: Russo, PA Mitchell, GA Tanguay, RM
Citation: Pa. Russo et al., Tyrosinemia: A review, PEDIATR D P, 4(3), 2001, pp. 212-221
The adipose tissue phenotype of hormone-sensitive lipase deficiency in mice
Authors: Wang, SP Laurin, N Himms-Hagen, J Rudnicki, MA Levy, E Robert, MF Pan, LH Oligny, L Mitchell, GA
Citation: Sp. Wang et al., The adipose tissue phenotype of hormone-sensitive lipase deficiency in mice, OBES RES, 9(2), 2001, pp. 119-128
Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus
Authors: Michaud, JL Boucher, F Melnyk, A Gauthier, F Goshu, E Levy, E Mitchell, GA Himms-Hagen, J Fan, CM
Citation: Jl. Michaud et al., Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus, HUM MOL GEN, 10(14), 2001, pp. 1465-1473
Neonatal hypoglycaemia in severe succinyl-CoA : 3-oxoacid CoA-transferase deficiency
Authors: Berry, GT Fukao, T Mitchell, GA Mazur, A Ciafre, M Gibson, J Kondo, N Palmieri, MJ
Citation: Gt. Berry et al., Neonatal hypoglycaemia in severe succinyl-CoA : 3-oxoacid CoA-transferase deficiency, J INH MET D, 24(5), 2001, pp. 587-595
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: Clinicalcourse and description of causal mutations in two patients
Authors: Bouchard, L Robert, MF Vinarov, D Stanley, CA Thompson, GN Morris, A Leonard, JV Quant, P Hsu, BYL Boneh, A Boukaftane, Y Ashmarina, L Wang, SP Miziorko, H Mitchell, GA
Citation: L. Bouchard et al., Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: Clinicalcourse and description of causal mutations in two patients, PEDIAT RES, 49(3), 2001, pp. 326-331
A role for hormone-sensitive lipase in glucose-stimulated insulin secretion - A study in hormone-sensitive lipase-deficient mice
Authors: Roduit, R Masiello, P Wang, SP Li, H Mitchell, GA Prentki, M
Citation: R. Roduit et al., A role for hormone-sensitive lipase in glucose-stimulated insulin secretion - A study in hormone-sensitive lipase-deficient mice, DIABETES, 50(9), 2001, pp. 1970-1975
A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16
Authors: Lee, N Daly, MJ Delmonte, T Lander, ES Xu, FH Hudson, TJ Mitchell, GA Morin, CC Robinson, BH Rioux, JD
Citation: N. Lee et al., A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16, AM J HU GEN, 68(2), 2001, pp. 397-409
The hormone-sensitive lipase gene is transcribed from at least five alternative first exons in mouse adipose tissue
Authors: Laurin, NN Wang, SP Mitchell, GA
Citation: Nn. Laurin et al., The hormone-sensitive lipase gene is transcribed from at least five alternative first exons in mouse adipose tissue, MAMM GENOME, 11(11), 2000, pp. 972-978
Succinyl-CoA : 3-ketoacid CoA transferase (SCOT): Cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations
Authors: Fukao, T Mitchell, GA Song, XQ Nakamura, H Kassovska-Bratinova, S Orii, KE Wraith, JE Besley, G Wanders, RJA Niezen-Koning, KE Berry, GT Palmieri, M Kondo, N
Citation: T. Fukao et al., Succinyl-CoA : 3-ketoacid CoA transferase (SCOT): Cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations, GENOMICS, 68(2), 2000, pp. 144-151
Molecular and enzymatic methods for detection of genetic defects in distalpathways of branched-chain amino acid metabolism
Authors: Gibson, KM Ugarte, M Fukao, T Mitchell, GA
Citation: Km. Gibson et al., Molecular and enzymatic methods for detection of genetic defects in distalpathways of branched-chain amino acid metabolism, METH ENZYM, 324, 2000, pp. 432-453
Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22 - and identification of a shared haplotype
Authors: Betard, C Rasquin-Weber, A Brewer, C Drouin, E Clark, S Verner, A Darmond-Zwaig, C Fortin, J Mercier, J Chagnon, P Fujiwara, TM Morgan, K Richter, A Hudson, TJ Mitchell, GA
Citation: C. Betard et al., Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22 - and identification of a shared haplotype, AM J HU GEN, 67(1), 2000, pp. 222-228
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused bymutations in a gene encoding a mitochondrial ornithine transporter
Authors: Camacho, JA Obie, C Biery, B Goodman, BK Hu, CA Almashanu, S Steel, G Casey, R Lambert, M Mitchell, GA Valle, D
Citation: Ja. Camacho et al., Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused bymutations in a gene encoding a mitochondrial ornithine transporter, NAT GENET, 22(2), 1999, pp. 151-158
Cerebral vascular complication and hyperhomocysteinemia in a cystinotic uremic child
Authors: Merouani, A Genest, J Rozen, R Lambert, M Mitchell, GA Dubois, J Robitaille, P
Citation: A. Merouani et al., Cerebral vascular complication and hyperhomocysteinemia in a cystinotic uremic child, PED NEPHROL, 13(1), 1999, pp. 73-76
Stroke-like episodes in autosomal recessive cytochrome oxidase deficiency
Authors: Morin, C Dube, J Robinson, BH Lacroix, J Michaud, J De Braekeleer, M Geoffroy, G Lortie, A Blanchette, C Lambert, MA Mitchell, GA
Citation: C. Morin et al., Stroke-like episodes in autosomal recessive cytochrome oxidase deficiency, ANN NEUROL, 45(3), 1999, pp. 389-392
Pyruvate carboxylase deficiency: Prenatal onset of ischemia-like brain lesions in two sibs with the acute neonatal forum
Authors: Brun, N Robitaille, Y Grignon, A Robinson, BH Mitchell, GA Lambert, M
Citation: N. Brun et al., Pyruvate carboxylase deficiency: Prenatal onset of ischemia-like brain lesions in two sibs with the acute neonatal forum, AM J MED G, 84(2), 1999, pp. 94-101
3-hydroxy-3-methylglutaryl coenzyme A lyase: targeting and processing in peroxisomes and mitochondria
Authors: Ashmarina, LI Pshezhetsky, AV Branda, SS Isaya, G Mitchell, GA
Citation: Li. Ashmarina et al., 3-hydroxy-3-methylglutaryl coenzyme A lyase: targeting and processing in peroxisomes and mitochondria, J LIPID RES, 40(1), 1999, pp. 70-75
3-hydroxy-3-methylglutaryl-CoA lyase (HL): gene targeting causes prenatal lethality in HL-deficient mice
Authors: Wang, SP Marth, JD Oligny, LL Vachon, M Robert, MF Ashmarina, L Mitchell, GA
Citation: Sp. Wang et al., 3-hydroxy-3-methylglutaryl-CoA lyase (HL): gene targeting causes prenatal lethality in HL-deficient mice, HUM MOL GEN, 7(13), 1998, pp. 2057-2062
Inborn errors of ketogenesis (vol 26, pg 136, 1998)
Authors: Mitchell, GA Wang, SP Ashmarina, L Robert, MF Bouchard, L Laurin, N Kassovska-Bratinova, S Boukaftane, Y
Citation: Ga. Mitchell et al., Inborn errors of ketogenesis (vol 26, pg 136, 1998), BIOCH SOC T, 26(4), 1998, pp. 771-771
Risultati: 1-19 |