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Diagnosis of Smith-Lemli-Opitz syndrome from stored filter paper blood specimens
BACKGROUND—Smith-Lemli-Opitz (SLO) syndrome is a recessively inheritable metabolic disease with deficiency of cholesterol and accumulation of dehydrocholesterols, caused by a defect in the last step of cholesterol biosynthesis. Biochemical methods for identification of affected individuals, even pre...
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| 主要な著者: | , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMJ Group
2000
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1718355/ https://ncbi.nlm.nih.gov/pubmed/10833186 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/adc.82.6.490 |
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