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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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Bibliographic Details
Main Authors: Starck, L, Lovgren, A
Format: Artigo
Language:Inglês
Published: BMJ Group 2000
Subjects:
Online Access: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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