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CLN2 disease is a predominantly late infantile form of neuronal ceroid lipofuscinosis and one of the many genetic isoforms of Batten disease. Mutations in the CLN2 gene are characterized by deficient lysosomal serine protease TPP1, an enzyme that metabolizes intracellular lysosomal storage
Background and current knowledge in the area:
Perinatal asphyxia is one of the commonest causes of neonatal death and long term disability, occurring in 20 per 1000 live births. Of these, approximately 2-3 per 1000 will go on to develop hypoxic-ischaemic encephalopathy (HIE) (1). In Ireland and the
Cognitive and neurological dysfunction after coronary artery bypass surgery (CABG) is common and multi-factorial in origin. Causative factors include cerebral Embolization (1), cerebral ischemia reperfusion (2), cerebral hyperthermia after discontinuation of cardiopulmonary bypass (CPB) (3), and the