Cholesterol supplementation in Smith-Lem
β Abuelo, Dianne N.
π Article
π
1998
π John Wiley and Sons
π English
β 2 KB
π 1 views
β¦ LIBER β¦
Smith-Lemli-Opitz syndrome in Japan
β Scribed by Tsukahara, Masato; Fujisawa, Keiko; Yamamoto, Kiyomi; Hasui, Masaki; Saito, Chikako; Yamamaka, Tsutomu; Honda, Akira; Honda, Megumi; Tint, G. Stephen; Salen, Gerald; Opitz, John M.
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 2 KB
- Volume
- 75
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19980106)75:1<118::aid-ajmg24>3.0.co;2-o
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We describe three unrelated patients with adrenal insufficiency and RSH or Smith-Lemli-Opitz syndrome (SLOS), a disorder due to deficient synthesis of cholesterol. These patients presented with hyponatremia, hyperkalemia, and decreased aldosterone-to-renin ratio, which is a sensitive measure of the
Incidence of Smith-Lemli-Opitz syndrome
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## To the Editor: The incidence of Smith-Lemli-Opitz syndrome (SLOS, McKusick 270 400) has been estimated to be approximately 1 in 50,000 to 1 in 20,000 births in North Americans [Kelley, 1997;Lowry and Yong, 1980]. However, the incidence greater than 1 in 10,000 in a completely ascertained newborn
Biochemical variants of Smith-Lemli-Opit
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1999
π John Wiley and Sons
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β 46 KB
π 1 views
Smith-Lemli-Opitz (SLO or RSH) syndrome is characterized by multiple congenital anomalies, mental retardation, and defective growth; it results from an inherited defect in the biosynthesis of cholesterol. Patients have elevated plasma concentrations of 7-dehydrocholesterol, the immediate biosyntheti
Response to ?Cholesterol supplementation
β Elias, Ellen Roy
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1998
π John Wiley and Sons
π English
β 3 KB
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RSH (Smith-Lemli-Opitz) syndrome: ?Sever
β de Jong, Greetje; Kirby, Pat A.; Muller, Linnie M.
π Article
π
1998
π John Wiley and Sons
π English
β 37 KB
π 1 views
We describe the antenatal ultrasound findings of growth retardation, oligohydramnios, mesomelic limb shortness, and cardiac, renal, and hand defects in a fetus who was postnatally diagnosed as having RSH ("Smith-Lemli-Opitz") syndrome. An unusual finding was ectrodactyly of both hands.