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A stent-graft was placed percutaneously in the right renal artery of a 50-year-old woman with hypertension and a fibromuscular dysplastic lesion consisting of severe stenoses and a 1.5-cm saccular aneurysm with a wide neck. At 1-year follow-up with arteriography, arterial luminal diameter was normal and no aneurysm was depicted. The patient's blood pressure(More)
Sequences of amplified DNA fragments from the ornithine transcarbamylase (OTC) genes were screened for 10 polymorphic single base substitutions in order to determine their frequency in the population. Six of the polymorphisms showed a frequency of 0.02 or less. The remaining four polymorphisms showed a range in frequency from 0.125 to 0.5. Based on the(More)
We characterized four new mutations in the ornithine transcarbamylase (OTC) gene in three male infants who died from acute neonatal hyperammonemia and one male infant with late onset disease. OTC enzymatic activity was undetectable in the livers of the three neonates, whereas residual enzymatic activity was present in the fourth patient. All 10 exons of the(More)
This mutation update addendum summarizes 30 new mutations and polymorphisms found in the ornithine transcarbamylase (OTC) gene since the publication in this journal of the first mutation update. Thus, more than 60 mutations and polymorphisms in the OTC gene are currently known. Most of the mutations have been seen in a single family and the few recurrent(More)
Ornithine transcarbamylase (OTCase) deficiency, the most commoninherited urea cycle disorder, is transmitted as an X-linked trait. The clinical phenotype in affected males as well as heterozygous females shows a spectrum of severity ranging from neonatal hyperammonaemic coma to asymptomatic adults. The ornithine transcarbamylase enzyme is a trimer with(More)
The development of peptidomimetic inhibitors of the human cytomegalovirus (HCMV) protease showing sub-micromolar potency in an enzymatic assay is described. Selective substitution of the amino acid residues of these inhibitors led to the identification of tripeptide inhibitors showing improvements in inhibitor potency of 27-fold relative to inhibitor 39(More)
Approximately 90 different mutations associated with ornithine transcarbamylase (OTC) deficiency are currently known. Thus, the majority represent private mutations. However, some of the mutations seemed to be recurrent. Our laboratories identified apparent deleterious mutations in 78 consecutive families with OTC deficiency by screening all exons and(More)