Child: care, health and development, 27(2), 173-181 (2001-03-17)
Lysosomal storage diseases are rare and coexistence of more than one in a family can present a diagnostic challenge as illustrated by this study. The index case born to consanguineous Asian parents presented with developmental delay. Investigations led to an
To show that the head may shrink in adult patients with aspartylglucosaminuria (AGU), a neurodegenerative disease. The head circumference (HC) of 40 adult patients (age at baseline 15 to 47) was measured twice with an interval of 10 years. Of
Journal of inherited metabolic disease, 29(5), 637-646 (2006-09-01)
Sleep disturbances are common in many progressive metabolic encephalopathies. The possible presence of disturbed sleep-wake behaviour in the lysosomal storage disorder aspartylglucosaminuria, has not been previously studied, however. The sleep-wake behaviour of 81 patients with aspartylglucosaminuria (AGU, age 3-55 years
Aspartylglycosaminuria (AGU), a severe lysosomal storage disease, is caused by the deficiency of the lysosomal enzyme, glycosylasparaginase (GA), and accumulation of aspartylglucosamine (GlcNAc-Asn) in tissues. Here we show that human leukocyte glycosylasparaginase can correct the metabolic defect in Epstein-Barr virus
N-linked glycosylation, modification, and degradation
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A6681-1MG
04061823686419
A6681-5MG
04061832387048
A6681-100MG
04061832387024
A6681-25MG
04061832387031
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