Dennis Bartholomew

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Neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome and maternally inherited Leigh's syndrome have been associated with T8993G point mutations in the mitochondrial adenosine triphosphatase 6 gene. Typically, NARP syndrome is characterized by developmental delay, seizures, dementia, retinitis pigmentosa, ataxia, sensory neuropathy, and proximal(More)
The cold hardiness of Ixodes scapularis Say unengorged larvae, engorged larvae, unengorged nymphs, engorged nymphs, and unengorged adults was evaluated. Ticks were exposed to cold for 2 or 8 h at a range of temperatures. Likelihood ratio tests and LT50 estimates were used to evaluate cold hardiness. Likelihood ratio tests indicated that stage and(More)
PURPOSE The aim of this study was to examine predictors of ammonia exposure and hyperammonemic crises in patients with urea cycle disorders. METHODS The relationships between fasting ammonia, daily ammonia exposure, and hyperammonemic crises were analyzed in >100 patients with urea cycle disorders. RESULTS Fasting ammonia correlated strongly with daily(More)
BACKGROUND Mucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficiency of β-glucuronidase (GUS). Patients' phenotypes vary from severe forms with hydrops fetalis, skeletal dysplasia and mental retardation to milder forms with fewer manifestations and mild skeletal abnormalities. Accurate assessments on the frequency and(More)
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