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M.Roman-PrezM.et al

VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis

USA 103 , 1771817723 (2006)

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Access this chapter Subscribe and save Buy Now Tax calculation will be finalised at checkout Purchases are for personal use only Similar content being viewed by others Abbreviations BMI: Body mass index CAT: Catalase COPD: Chronic obstructive pulmonary disease Cu-Zn-SOD: Copper, zinc superoxide dismutase CVD: Cardiovascular diseases DM2: Type 2 diabetes mellitus DNA: Deoxyribonucleic acid DNPH: 2,4-dinitrophenylhydrazine Fe-SOD: Iron superoxide dismutase FMOC: 9-fluorenylmethoxycarbonyl hydrazine GPx: Glutathione peroxidase GPx-1: Glutathione peroxidase 1 GPx-2: Glutathione peroxidase 2 GPx-3: Glutathione peroxidase 3 GPx-4: Glutathione peroxidase 4 GR: Glutathione reductase GSH: Reduced glutathione GSSH: Oxidized glutathione H 2 O 2 : Hydrogen peroxide Hb: Hemoglobin HPLC: High-performance liquid chromatography KCN: Potassium cyanide LDL: Low-density lipoproteins LP: Lipid peroxidation M1dG: 3-(2-deoxy--d-erythro-pentafuranosyl) pyrimido[1,2-]purin-10(3H)-one deoxyguanosine MDA: Malondialdehyde Mn-SOD: Manganese superoxide dismutase NADPH: Nicotinamide adenine dinucleotide phosphate NU: Nitrite units O 2 -: Superoxide anion PUFA: Polyunsaturated fatty acids ROS: Reactive oxygen species SNP: Single-nucleotide polymorphism SOD: Superoxide dismutase SOD1: Superoxide dismutase 1 SOD2: Superoxide dismutase 2 SOD3: Superoxide dismutase 3 TBA: Thiobarbituric acid TBARS: Thiobarbituric acid reactive substances TXA2: Thromboxane A2 U/g Hb: Units per gram of hemoglobin References Aebi H