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pubmed-article:8986099pubmed:abstractTextWe reported the decreased level of cholesterol as well as the elevated levels of 7- and 8-dehydrocholesterol in the serum and erythrocytes of a Japanese patient with Smith-Lemli-Opitz syndrome. These findings suggested that the detection of these precursors of cholesterol synthesis should become an important biochemical parameter for this syndrome in which clinical features are not always obvious.lld:pubmed
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pubmed-article:8986099pubmed:issn0029-0831lld:pubmed
pubmed-article:8986099pubmed:authorpubmed-author:KasamaTTlld:pubmed
pubmed-article:8986099pubmed:authorpubmed-author:TakiTTlld:pubmed
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pubmed-article:8986099pubmed:authorpubmed-author:YachieAAlld:pubmed
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pubmed-article:8986099pubmed:volume29lld:pubmed
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pubmed-article:8986099pubmed:pagination61-6lld:pubmed
pubmed-article:8986099pubmed:dateRevised2008-12-25lld:pubmed
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pubmed-article:8986099pubmed:year1997lld:pubmed
pubmed-article:8986099pubmed:articleTitle[Identification of impaired cholesterol biosynthesis in a Japanese patient of Smith-Lemli-Opitz syndrome].lld:pubmed
pubmed-article:8986099pubmed:affiliationDepartment of Pediatrics, National Sanatorium Io Hospital, Ishikawa.lld:pubmed
pubmed-article:8986099pubmed:publicationTypeJournal Articlelld:pubmed
pubmed-article:8986099pubmed:publicationTypeEnglish Abstractlld:pubmed
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