The behavior phenotype of Smith-Lemli-Opitz syndrome (SLOS) was studied by assessing behavior, social, and communication abilities, sensory hyperreactivity, and the deficits associated with autistic disorder. Fifty-six SLOS subjects, age 0.3 to 32.3 years, were evaluated by multiple age-dependent qu
Variability in the Smith-Lemli-Opitz syndrome: Overlap with the meckel syndrome
β Scribed by Lowry, R. B. ;Opitz, John M.
- Publisher
- John Wiley and Sons
- Year
- 1983
- Tongue
- English
- Weight
- 332 KB
- Volume
- 14
- Category
- Article
- ISSN
- 0148-7299
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## Abstract The urinary bile acids from four patients with SmithβLemliβOpitz (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
We wish to contribute to the current debate about the Smith-Lemli-Opitz syndrome (SLO) and enliven it by evidence one of us (D.D.) presented in a paper at the 2nd Manchester Birth Defects Conference in October 1986 following a suggestion made by John Graham in a personal communication that the sever
The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is a relatively common, autosomal recessive malformation syndrome comprising distinctive facial, limb and genital anomalies, and mental retardation. Most patients with a clinical diagnosis of RSH/SLOS have a defect of cholesterol biosynthesis at the leve