Matches in UGent Biblio for { <https://biblio.ugent.be/publication/1061233#aggregation> ?p ?o. }
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- aggregation classification "A1".
- aggregation creator B459651.
- aggregation creator B459652.
- aggregation creator B459653.
- aggregation creator B459654.
- aggregation creator B459655.
- aggregation creator B459656.
- aggregation creator B459657.
- aggregation creator B459658.
- aggregation creator person.
- aggregation date "2010".
- aggregation format "application/pdf".
- aggregation hasFormat 1061233.bibtex.
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- aggregation hasFormat 1061233.dc.
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- aggregation isPartOf urn:issn:0364-5134.
- aggregation language "eng".
- aggregation rights "I have transferred the copyright for this publication to the publisher".
- aggregation subject "Biology and Life Sciences".
- aggregation title "Mutations in PEX10 are a cause of autosomal recessive ataxia".
- aggregation abstract "Peroxisomal biogenesis disorders typically cause severe multisystem disease and early death. We describe a child and an adult of normal intelligence with progressive ataxia, axonal motor neuropathy, and decreased vibration sense. Both patients had marked cerebellar atrophy. Peroxisomal studies revealed a peroxisomal biogenesis disorder. Two mutations in PEX10 were found in the child, c.992G>A (novel) and c.764_765insA, and in the adult, c.2T>C (novel) and c.790C>T. Transfection with wild-type PEX10 corrected the fibroblast phenotype. Bile acid supplements and dietary restriction of phytanic acid were started. Peroxisomal biogenesis disorders should be considered in the differential diagnosis of autosomal recessive ataxia.".
- aggregation authorList BK797112.
- aggregation endPage "263".
- aggregation issue "2".
- aggregation startPage "259".
- aggregation volume "68".
- aggregation aggregates 1061338.
- aggregation isDescribedBy 1061233.
- aggregation similarTo ana.22035.
- aggregation similarTo LU-1061233.