AAAAAA

   
Results: 1-9 |
Results: 9
Aberrant rnRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency
Authors: Hsu, BYL Iacobazzi, V Wang, ZL Harvie, H Chalmers, RA Saudubray, JM Palmieri, F Ganguly, A Stanley, CA
Citation: Byl. Hsu et al., Aberrant rnRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency, MOL GEN MET, 74(1-2), 2001, pp. 248-255
A novel mutation in the flavin-containing monooxygenase 3 gene, FMO3, thatcauses fish-odour syndrome: activity of the mutant enzyme assessed by proton NMR spectroscopy
Authors: Murphy, HC Dolphin, CT Janmohamed, A Holmes, HC Michelakakis, H Shephard, EA Chalmers, RA Phillips, IR Iles, RA
Citation: Hc. Murphy et al., A novel mutation in the flavin-containing monooxygenase 3 gene, FMO3, thatcauses fish-odour syndrome: activity of the mutant enzyme assessed by proton NMR spectroscopy, PHARMACOGEN, 10(5), 2000, pp. 439-451
Oral cobalamin therapy
Authors: Chalmers, RA Bain, MD Costello, I
Citation: Ra. Chalmers et al., Oral cobalamin therapy, LANCET, 355(9198), 2000, pp. 148-148
Artefacts in organic acid analysis: occurrence and origin of partially trimethylsilylated 3-hydroxy-3-methyl carboxylic acids
Authors: Jones, MG Chalmers, RA
Citation: Mg. Jones et Ra. Chalmers, Artefacts in organic acid analysis: occurrence and origin of partially trimethylsilylated 3-hydroxy-3-methyl carboxylic acids, CLIN CHIM A, 300(1-2), 2000, pp. 203-212
In vitro and in vivo studies with human carrier erythrocytes loaded with polyethylene glycol-conjugated and native adenosine deaminase
Authors: Bax, BE Bain, MD Fairbanks, LD Webster, ADB Chalmers, RA
Citation: Be. Bax et al., In vitro and in vivo studies with human carrier erythrocytes loaded with polyethylene glycol-conjugated and native adenosine deaminase, BR J HAEM, 109(3), 2000, pp. 549-554
Deconvolution gas chromatography mass spectrometry of urinary organic acids - Potential for pattern recognition and automated identification of metabolic disorders
Authors: Halket, JM Przyborowska, A Stein, SE Mallard, WG Down, S Chalmers, RA
Citation: Jm. Halket et al., Deconvolution gas chromatography mass spectrometry of urinary organic acids - Potential for pattern recognition and automated identification of metabolic disorders, RAP C MASS, 13(4), 1999, pp. 279-284
D-2-hydroxyglutaric aciduria: Biochemical marker or clinical disease entity?
Authors: van der Knaap, MS Jakobs, C Hoffmann, GF Nyhan, WL Renier, WO Smeitink, JAM Catsman-Berrevoets, CE Hjalmarson, O Vallance, H Sugita, K Bowe, CM Herrin, JT Craigen, WJ Buist, NRM Brookfield, DSK Chalmers, RA
Citation: Ms. Van Der Knaap et al., D-2-hydroxyglutaric aciduria: Biochemical marker or clinical disease entity?, ANN NEUROL, 45(1), 1999, pp. 111-119
Survival of human carrier erythrocytes in vivo
Authors: Bax, BE Bain, MD Talbot, PJ Parker-Williams, EJ Chalmers, RA
Citation: Be. Bax et al., Survival of human carrier erythrocytes in vivo, CLIN SCI, 96(2), 1999, pp. 171-178
Secondary analysis of economic data: a review of cost-benefit studies of neonatal screening for phenylketonuria
Authors: Lord, J Thomason, MJ Littlejohns, P Chalmers, RA Bain, MD Addison, GM Wilcox, AH Seymour, CA
Citation: J. Lord et al., Secondary analysis of economic data: a review of cost-benefit studies of neonatal screening for phenylketonuria, J EPIDEM C, 53(3), 1999, pp. 179-186
Risultati: 1-9 |