A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencepha...
A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
beta-Mannosidosis (OMIM 248510) is a rare inborn lysosomal storage disorder caused by the deficient activity of beta-mannosidase, an enzyme encoded by a single gene (MANBA) located on chromosome 4q22-25. To date, only 20 cases of this autosomal recessive disorder have been described and 14 different MANBA mutations were incriminated in the disease....
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Full title
A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant
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TN_cdi_doaj_primary_oai_doaj_org_article_d5c0e88ef66d47df9426e73a0e1fee7d
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_d5c0e88ef66d47df9426e73a0e1fee7d
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ISSN
1471-2350,1471-2156
E-ISSN
1471-2350,1471-2156
DOI
10.1186/1471-2350-10-84
