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Two brothers presented in their mid-forties with movement disorders including atypical parkinsonism, choreiform movements, stereotypies, ataxia and dysarthria. Both brothers showed putaminal lucencies on imaging and, in the proband, a deficiency of the pyruvate dehydrogenase complex (PDHC) was found on skin fibroblast assay.
4021 Background: At presentation, most cases of adenocarcinoma of the oesophagus (ACO) are inoperable and, although chemotherapy with cisplatin/5-fluorouracil can prolong survival, patients eventually die as a result of refractory disease. Expression of epidermal growth factor receptor (EGFR) is a negative prognostic factor. EGFR is almost universally(More)
BACKGROUND Cardiovascular disease is the major cause of death in the end-stage renal disease population. Novel risk factors such as homocysteine (Hcy) are of considerable interest in this group as hyperhomocysteinaemia is highly prevalent in the setting of renal impairment. Folic acid-vitamin B group therapies are only partially effective treatments. Hcy is(More)
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