Cholesterol Supplementation Enhances Growth of Phallus in Smith-Lemli-Opitz Syndrome † 444
نویسندگان
چکیده
منابع مشابه
Smith-Lemli-Opitz syndrome
Mayeda K, Weiss L, Lindahl R, Dully M. Localization of the human lactate dehydrogenase B gene on the short arm of chromosome 12. Ain J Humn Genet 1974:26:59-64. 2 Kivlin JD, Fineman RM, Williams MS. Phenotype variation in the del(12p) syndrome. Am J Med Genet 1985;22:769-79. 3 Magenis E, Brown M G. Chamberlin J. et al. Resolution of breakpoints in a complex rearrangement by use of multiple stai...
متن کامل[Smith Lemli-Opitz syndrome].
BACKGROUND Smith-Lemli-Opitz syndrome (SLOS) is an autosomic recessive metabolic affection. Children affected by SLOS exhibit a defect in cholesterol biosynthesis associated with a high concentration of cholesterol precursor 7 dehydrocholesterol (7 DHC) and its isomers, which is due to an enzymatic block at the level of delta-7-DHC reductase. SLOS has been subdivided into two types on the basis...
متن کاملThe Smith-Lemli-Opitz syndrome.
The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and the subsequent redefinition of SLOS as an inborn error of cholesterol metabolism have led to important new treatment possibilities for affected patients. Moreover, the recent recognition of the important role of cholesterol in ver...
متن کاملPeroxisomal cholesterol biosynthesis and Smith-Lemli-Opitz syndrome.
Smith-Lemli-Opitz syndrome (SLOS), caused by 7-dehydrocholesterol-reductase (DHCR7) deficiency, shows variable severity independent of DHCR7 genotype. To test whether peroxisomes are involved in alternative cholesterol synthesis, we used [1-(14)C]C24:0 for peroxisomal beta-oxidation to generate [1-(14)C]acetyl-CoA as cholesterol precursor inside peroxisomes. The HMG-CoA reductase inhibitor lova...
متن کاملReview article The Smith-Lemli-Opitz syndrome
The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and the subsequent redefinition of SLOS as an inborn error of cholesterol metabolism have led to important new treatment possibilities for aVected patients. Moreover, the recent recognition of the important role of cholesterol in vert...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1998
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-199804001-00465