We describe the clinical effects of cholesterol supplementation in 6 children with the RSH-"Smith-Lemli-Opitz" syndrome (SLOS). The children ranged in age from birth to 11 years at the onset of therapy, with pretreatment cholesterol levels ranging from 8 to 62 mg/dl. Clinical benefits of therapy wer
Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome
β Scribed by Langius, Fernanda A.A. ;Waterham, Hans R. ;Romeijn, Gerrit Jan ;Oostheim, Wendy ;de Barse, Martina M.J. ;Dorland, Lambertus ;Duran, Marinus ;Beemer, Frits A. ;Wanders, Ronald J.A. ;Poll-The, Bwee Tien
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 153 KB
- Volume
- 122A
- Category
- Article
- ISSN
- 0148-7299
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RSH/Smith-Lemli-Opitz (RSH/SLO) syndrome is an autosomal recessive malformation syndrome recently shown to be associated with a severe deficiency of cholesterol biosynthesis and markedly elevated plasma and tissue levels of 7-dehydrocholesterol (7-DHC), the immediate precursor of cholesterol in the
A cytogenetically normal male fetus was subsequently found to have female external genitalia, a cardiac malformation and mid-trimester intra-uterine growth retardation by ultrasound examination. The maternal serum oestriol level was low. The combination of low oestriol and sonographic findings sugge
In this study, time-of-flight secondary ion mass spectrometry was used to distinguish between blood of normal infants and that of individuals with Smith-Lemli-Opitz (SLO) syndrome. SLO syndrome results in an abnormally low concentration of blood cholesterol and an elevated concentration of 7dehydroc