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Results: 1-13 |
Results: 13
Heterozygosity: An expanding role in proteomics
Authors: Vladutiu, GD
Citation: Gd. Vladutiu, Heterozygosity: An expanding role in proteomics, MOL GEN MET, 74(1-2), 2001, pp. 51-63
Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria
Authors: Scaglia, F Sutton, VR Bodamer, OAF Vogel, H Shapira, SK Naviaux, RK Vladutiu, GD
Citation: F. Scaglia et al., Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria, J CHILD NEU, 16(2), 2001, pp. 136-138
New syndrome? 46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters
Authors: Hisama, FM Zemel, S Cherniske, EM Vladutiu, GD Pober, BR
Citation: Fm. Hisama et al., New syndrome? 46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters, AM J MED G, 98(2), 2001, pp. 121-124
Synergistic heterozygosity: Disease resulting from multiple partial defects in one or more metabolic pathways
Authors: Vockley, J Rinaldo, P Bennett, MJ Matern, D Vladutiu, GD
Citation: J. Vockley et al., Synergistic heterozygosity: Disease resulting from multiple partial defects in one or more metabolic pathways, MOL GEN MET, 71(1-2), 2000, pp. 10-18
A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene
Authors: Vladutiu, GD Bennett, MJ Smail, D Wong, LJ Taggart, RT Lindsley, HB
Citation: Gd. Vladutiu et al., A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene, MOL GEN MET, 70(2), 2000, pp. 134-141
The molecular diagnosis of metabolic myopathies
Authors: Vladutiu, GD
Citation: Gd. Vladutiu, The molecular diagnosis of metabolic myopathies, NEUROL CLIN, 18(1), 2000, pp. 53
Complex phenotypes in metabolic muscle diseases
Authors: Vladutiu, GD
Citation: Gd. Vladutiu, Complex phenotypes in metabolic muscle diseases, MUSCLE NERV, 23(8), 2000, pp. 1157-1159
Combined biochemical and molecular diagnosis in blood of a common lipid myopathy
Authors: Vladutiu, GD Slonim, AE
Citation: Gd. Vladutiu et Ae. Slonim, Combined biochemical and molecular diagnosis in blood of a common lipid myopathy, MUSCLE NERV, 23(11), 2000, pp. 1773-1775
Mitochondrial disease in patients with exercise intolerance.
Authors: Vladutiu, GD Tabone, E
Citation: Gd. Vladutiu et E. Tabone, Mitochondrial disease in patients with exercise intolerance., N ENG J MED, 342(6), 2000, pp. 438-439
Succinate dehydrogenase deficiency - A qualitative and quantitative assessment in muscle
Authors: Vladutiu, GD Heffner, RR
Citation: Gd. Vladutiu et Rr. Heffner, Succinate dehydrogenase deficiency - A qualitative and quantitative assessment in muscle, ARCH PATH L, 124(12), 2000, pp. 1755-1758
Novel mutations associated with carnitine palmitoyltransferase II deficiency
Authors: Taggart, RT Smail, D Apolito, C Vladutiu, GD
Citation: Rt. Taggart et al., Novel mutations associated with carnitine palmitoyltransferase II deficiency, HUM MUTAT, 13(3), 1999, pp. 210-220
Biochemical and molecular correlations in carnitine palmitoyltransferase II deficiency
Authors: Vladutiu, GD
Citation: Gd. Vladutiu, Biochemical and molecular correlations in carnitine palmitoyltransferase II deficiency, MUSCLE NERV, 22(7), 1999, pp. 949-951
Rapid, cost-effective gene mutation screening for carnitine palmitoyltransferase II deficiency using whole blood on filter paper
Authors: Smail, D Gambino, L Boles, C Vladutiu, GD
Citation: D. Smail et al., Rapid, cost-effective gene mutation screening for carnitine palmitoyltransferase II deficiency using whole blood on filter paper, CLIN CHEM, 45(11), 1999, pp. 2035-2038
Risultati: 1-13 |