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- W1964182466 abstract "Two cases of mannosidosis are reported in brothers, one aged 41 years at death, the other aged 40 years and still alive. These patients are the oldest reported in the literature. Prolonged survival has previously been associated with the milder Type II phenotype. In addition to the characteristic clinical and radiological features of mannosidosis, both had severe joint destruction, which may be related to abnormal lysosomal enzymes in cartilage. The activity of acidic alpha-mannosidase was markedly reduced in plasma, leucocytes and fibroblasts, and the altered kinetic and physical properties are described." @default.
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- W1964182466 date "2008-04-23" @default.
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- W1964182466 title "Mannosidosis in two brothers: prolonged survival in the severe phenotype" @default.
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- W1964182466 doi "https://doi.org/10.1111/j.1399-0004.1982.tb01447.x" @default.
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