Smith‐Lemli‐Opitz syndrome: Deficient Δ7‐reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre‐ and postnatal detection

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Bibliographic Details
Published in:Journal of inherited metabolic disease 1997-07, Vol.20 (3), p.432-436
Main Authors: Wanders, R. J. A., Romeijn, G. J., Wijburg, F., Hennekam, R. C. M., Jong, J., Wevers, R. A., Dacremont, G.
Format: Article
Language:English
Subjects:
Biological and medical sciences
Errors of metabolism
Lipids (lysosomal enzyme disorders, storage diseases)
Medical sciences
Metabolic diseases
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ISSN:0141-8955
1573-2665
DOI:10.1023/A:1005371104822