Dennis Bartholomew

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BACKGROUND Pompe disease is a progressive metabolic neuromuscular disorder resulting from deficiency of lysosomal acid alpha-glucosidase (GAA). Infantile-onset Pompe disease is characterized by cardiomyopathy, respiratory and skeletal muscle weakness, and early death. The safety and efficacy of recombinant human (rh) GAA were evaluated in 18 patients with(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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