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The complete sequence of adeno-associated virus type 1 (AAV-1) was defined. Its genome of 4,718 nucleotides demonstrates high homology with those of other AAV serotypes, including AAV-6, which appears to have arisen from homologous recombination between AAV-1 and AAV-2. Analysis of sera from nonhuman and human primates for neutralizing antibodies (NAB)(More)
Ornithine transcarbamylase (OTC) deficiency, a partially dominant X-linked disorder, is the most common inherited defect of the urea cycle. Previous reports suggested a variable phenotypic spectrum, and several studies documented different "private" mutations in the OTC genes of patients. Our laboratory identified disease-causing mutations in 157 families(More)
Two adolescents with debilitating, medication-resistant, chronic pain of the low back and abdomen with intermittent pain of the genitalia were diagnosed with intervertebral disk disease at spinal cord levels that correlated with their signs. Both patients had undergone multiple evaluations by physicians of different specialties and both underwent(More)
The ornithine transcarbamylase (OTC) gene is located on the short arm of the X-chromosome and encodes the second enzyme of the urea cycle. OTC deficiency is an X-linked disorder that causes hyperammonemia leading to brain damage, mental retardation and death. The clinical and biochemical phenotype is extremely variable and can only partially be explained by(More)
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