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Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes

✍ Scribed by V. Cormier-Daire; C. Wolf; A. Munnich; M. Le Merrer; A. Nivelon; D. Bonneau; H. Journel; F. Fellmann; F. Chevy; C. Roux

Book ID
105413635
Publisher
Springer
Year
1996
Tongue
English
Weight
352 KB
Volume
155
Category
Article
ISSN
0340-6997

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Abnormal bile acids in the Smith-Lemli-O
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✍ Natowicz, Marvin R. ;Evans, James E. πŸ“‚ Article πŸ“… 1994 πŸ› John Wiley and Sons 🌐 English βš– 403 KB πŸ‘ 2 views

## Abstract The urinary bile acids from four patients with Smith‐Lemli‐Opitz (SLO) syndrome were analyzed by continuous flow fast atom bombardment mass spectrometry. Two types of abnormalities were noted: (1) a deficiency of normal bile acids (cholenoates) and (2) the presence of abnormal species p