Gastón Martínez

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We have shown previously that a variant allele of the short-chain acyl-CoA dehydrogenase ( SCAD ) gene, 625G-->A, is present in homozygous form in 7% of control individuals and in 60% of 135 patients with elevated urinary excretion of ethylmalonic acid (EMA). We have now characterized three disease-causing mutations (confirmed by lack of enzyme activity(More)
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is an inborn error of fatty acid metabolism. It is one of the most frequent genetic metabolic disorders among Caucasian children. The G985 allele represented 90% of all the variant alleles of the MCAD gene in an extensive series of retrospective studies. To study the distribution of the G985 allele,(More)
1. Inhibitory modulation of sympathetic nerve function may have a favourable impact on the progression of congestive heart failure. Nepicastat is a novel inhibitor of dopamine-beta-hydroxylase, the enzyme which catalyses the conversion of dopamine to noradrenaline in sympathetic nerves. The in vitro pharmacology and in vivo catecholamine modulatory effects(More)
Ethylmalonic aciduria is a common biochemical finding in patients with inborn errors of short chain fatty acid beta-oxidation. The urinary excretion of ethylmalonic acid (EMA) may stem from decreased oxidation by short chain acyl-CoA dehydrogenase (SCAD) of butyryl-CoA, which is alternatively metabolized by propionyl-CoA carboxylase to EMA. We have recently(More)
A precise measurement of the proton flux in primary cosmic rays with rigidity (momentum/charge) from 1 GV to 1.8 TV is presented based on 300 million events. Knowledge of the rigidity dependence of the proton flux is important in understanding the origin, acceleration, and propagation of cosmic rays. We present the detailed variation with rigidity of the(More)
Cross-sections and angular distributions for hadronic and lepton pair final states in e+e− collisions at a centre-of-mass energy near 189 GeV, measured with the OPAL detector at LEP, are presented and compared with the predictions of the Standard Model. The results are used to measure the energy dependence of the electromagnetic coupling constant αem, and(More)
Notohippidae were middle-sized toxodonts recorded from the Eocene to the early Miocene. We provide the first description of the cranial endocasts of Rhynchippus equinus and Eurygenium latirostris based on three-dimensional reconstructions extracted from high-resolution X-ray computed tomography imagery. The endocasts of R. equinus and E. latirostris(More)
We present a case of a patient submitted for extirpation of a neoplasm of the larynx, by means of carbon dioxide laser surgery. High frequency jet ventilation was applied by means of orotracheal intubation with two Teflon catheters, 2 mm in external diameter and 30 cm in length, attached with three equally placed strips of adhesive paper tape. One catheter(More)
We have performed a systematic temporal and spatial expression profiling of the developing mouse kidney using Compugen long-oligonucleotide microarrays. The activity of 18,000 genes was monitored at 24-h intervals from 10.5-day-postcoitum (dpc) metanephric mesenchyme (MM) through to neonatal kidney, and a cohort of 3,600 dynamically expressed genes was(More)
A precision measurement by the Alpha Magnetic Spectrometer on the International Space Station of the positron fraction in primary cosmic rays in the energy range from 0.5 to 350 GeV based on 6.8 × 10(6) positron and electron events is presented. The very accurate data show that the positron fraction is steadily increasing from 10 to ∼ 250  GeV, but, from 20(More)