Enzyme Research
Research on enzyme research detailed by scientists at Royal Perth Hospital
Published in Pain and Central Nervous System Week, December 15th, 2008
Scientists discuss in 'A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease' new findings in enzyme research. "Lysosomal acid lipase plays an important role in maintaining cellular cholesterol homeostasis. Complete absence of lysosomal acid lipase activity results in Wolman disease and usually death in infancy, whereas partial deficiency of lysosomal acid lipase results in cholesteryl ester storage disease (CESD)," scientists in Perth, Australia report.
"We describe a 26 year-old female with CESD who presented with recurrent right upper quadrant abdominal pain. Abnormal liver function tests and a subsequent liver biopsy revealed...
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