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Results: 1-10 |
Results: 10
Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): Successful prenatal and postmortem diagnosis associated with a novel mutation ina single family
Authors: Yang, BZ Mallory, JM Roe, DS Brivet, M Strobel, GD Jones, KM Ding, JH Roe, CR
Citation: Bz. Yang et al., Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): Successful prenatal and postmortem diagnosis associated with a novel mutation ina single family, MOL GEN MET, 73(1), 2001, pp. 64-70
Prenatal diagnosis of multiple acyl-CoA dehydrogenase deficiency: association with elevated alpha-fetoprotein and cystic renal changes
Authors: Chisholm, CA Vavelidis, F Lovell, MA Sweetman, L Roe, CR Roe, DS Frerman, FE Wilson, WG
Citation: Ca. Chisholm et al., Prenatal diagnosis of multiple acyl-CoA dehydrogenase deficiency: association with elevated alpha-fetoprotein and cystic renal changes, PRENAT DIAG, 21(10), 2001, pp. 856-859
Oxidation of unsaturated fatty acids by human fibroblasts with very-long-chain acyl-CoA dehydrogenase deficiency: aspects of substrate specificity and correlation with clinical phenotype
Authors: Roe, DS Vianey-Saban, C Sharma, S Zabot, MT Roe, CR
Citation: Ds. Roe et al., Oxidation of unsaturated fatty acids by human fibroblasts with very-long-chain acyl-CoA dehydrogenase deficiency: aspects of substrate specificity and correlation with clinical phenotype, CLIN CHIM A, 312(1-2), 2001, pp. 55-67
Evidence for a short-chain carnitine-acylcarnitine translocase in mitochondria specifically related to the metabolism of branched-chain amino acids
Authors: Roe, DS Roe, CR Brivet, M Sweetman, L
Citation: Ds. Roe et al., Evidence for a short-chain carnitine-acylcarnitine translocase in mitochondria specifically related to the metabolism of branched-chain amino acids, MOL GEN MET, 69(1), 2000, pp. 69-75
Detection of gene defects in branched-chain amino acid metabolism by tandem mass spectrometry of carnitine esters produced by cultured fibroblasts
Authors: Roe, CR Roe, DS
Citation: Cr. Roe et Ds. Roe, Detection of gene defects in branched-chain amino acid metabolism by tandem mass spectrometry of carnitine esters produced by cultured fibroblasts, METH ENZYM, 324, 2000, pp. 424-431
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: A new inborn error ofL-isoleucine metabolism
Authors: Gibson, KM Burlingame, TG Hogema, B Jakobs, C Schutgens, RBH Millington, D Roe, CR Roe, DS Sweetman, L Steiner, RD Linck, L Pohowalla, P Sacks, M Kiss, D Rinaldo, P Vockley, J
Citation: Km. Gibson et al., 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: A new inborn error ofL-isoleucine metabolism, PEDIAT RES, 47(6), 2000, pp. 830-833
Recent developments in the investigation of inherited metabolic disorders using cultured human cells
Authors: Roe, CR Roe, DS
Citation: Cr. Roe et Ds. Roe, Recent developments in the investigation of inherited metabolic disorders using cultured human cells, MOL GEN MET, 68(2), 1999, pp. 243-257
Identification of two novel mutations in the hypoglycemic phenotype of very long chain acyl-CoA dehydrogenase deficiency
Authors: He, GC Yang, BZ Roe, DS Teramoto, R Aleck, K Grebe, TA Roe, CR Ding, JH
Citation: Gc. He et al., Identification of two novel mutations in the hypoglycemic phenotype of very long chain acyl-CoA dehydrogenase deficiency, BIOC BIOP R, 264(2), 1999, pp. 483-487
Isolated isobutyryl-CoA dehydrogenase deficiency: An unrecognized defect in human valine metabolism
Authors: Roe, CR Cederbaum, SD Roe, DS Mardach, R Galindo, A Sweetman, L
Citation: Cr. Roe et al., Isolated isobutyryl-CoA dehydrogenase deficiency: An unrecognized defect in human valine metabolism, MOL GEN MET, 65(4), 1998, pp. 264-271
Exploiting melt compressibility to achieve improved weld line strengths
Authors: Kazmer, DO Roe, DS
Citation: Do. Kazmer et Ds. Roe, Exploiting melt compressibility to achieve improved weld line strengths, PLAST RUB C, 27(6), 1998, pp. 272-278
Risultati: 1-10 |