α - and β -mannosidoses
作者： A. Cooper , C. E. Hatton , M. Thornley , I. B. Sardharwalla
DOI: 10.1007/978-94-009-2175-7_15
关键词:
摘要: Clinical, pathological and biochemical findings in the mannosidoses are described. Family studies showed granulocyte-rich white cell fractions to be tissue of choice for carrier detection β-mannosidosis. Metabolic labelling using [3H] mannose demonstrated accumulation Manβ1-4GlcNAc cultured skin fibroblasts from a patient with this condition. Alternative methods egress lysosomes were suggested compound by its secretion into culture medium apparent reduction storage time cultures. β-mannosidase deficient goats not thought true animal model human condition, as although they similar enzyme deficiency, clinical presentation is much more severe major material (Manβ1-4GlcNAcβ1-4GlcNAc) different.
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