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Results: 1-7 |
Results: 7
Immunological phenotyping of fibroblast cultures from patients with a mitochondrial respiratory chain deficit
Authors: Williams, SL Scholte, HR Gray, RGF Leonard, JV Schapira, AHV Taanman, JW
Citation: Sl. Williams et al., Immunological phenotyping of fibroblast cultures from patients with a mitochondrial respiratory chain deficit, LAB INV, 81(8), 2001, pp. 1069-1077
Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency
Authors: Chambliss, KL Gray, RGF Rylance, G Pollitt, RJ Gibson, KM
Citation: Kl. Chambliss et al., Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency, J INH MET D, 23(5), 2000, pp. 497-504
Inborn errors of metabolism as a cause of neurological disease in adults: an approach to investigation
Authors: Gray, RGF Preece, MA Green, SH Whitehouse, W Winer, J Green, A
Citation: Rgf. Gray et al., Inborn errors of metabolism as a cause of neurological disease in adults: an approach to investigation, J NE NE PSY, 69(1), 2000, pp. 5-12
Cytochrome oxidase deficiency presenting as birth asphyxia
Authors: Willis, TA Davidson, J Gray, RGF Poulton, K Ramani, P Whitehouse, W
Citation: Ta. Willis et al., Cytochrome oxidase deficiency presenting as birth asphyxia, DEVELOP MED, 42(6), 2000, pp. 414-417
Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis
Authors: Houten, SM Romeijn, GJ Koster, J Gray, RGF Darbyshire, P Smit, GPA de Klerk, JBC Duran, M Gibson, KM Wanders, RJA Waterham, HR
Citation: Sm. Houten et al., Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis, HUM MOL GEN, 8(8), 1999, pp. 1523-1528
The Leber hereditary optic neuropathy 14484 mutation and X-linked adrenoleukodystrophy: A possible modifier of phenotypic expression?
Authors: Gray, RGF Green, SH Davies, P Alger, S Green, A
Citation: Rgf. Gray et al., The Leber hereditary optic neuropathy 14484 mutation and X-linked adrenoleukodystrophy: A possible modifier of phenotypic expression?, J INH MET D, 22(6), 1999, pp. 760-761
Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures
Authors: Blake, JC Taanman, JW Morris, AMM Gray, RGF Cooper, JM McKiernan, PJ Leonard, JV Schapira, AHV
Citation: Jc. Blake et al., Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures, AM J PATH, 155(1), 1999, pp. 67-70
Risultati: 1-7 |