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Heterogeneity in di/trihydroxycholestanoic acidaemia.

作者信息

ten Brink H J, Wanders R J, Christensen E, Brandt N J, Jakobs C

机构信息

Department of Pediatrics, Free University Hospital, Amsterdam, The Netherlands.

出版信息

Ann Clin Biochem. 1994 Mar;31 ( Pt 2):195-7. doi: 10.1177/000456329403100217.

DOI:10.1177/000456329403100217
PMID:8060102
Abstract
摘要

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Ataxia associated with increased plasma concentrations of pristanic acid, phytanic acid and C27 bile acids but normal fibroblast branched-chain fatty acid oxidation.共济失调与血浆中降植烷酸、植烷酸和C27胆汁酸浓度升高相关,但成纤维细胞支链脂肪酸氧化正常。
J Inherit Metab Dis. 1996;19(6):761-8. doi: 10.1007/BF01799170.