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Stability study of dehydrocholesterols in dried spot of blood from patients with Smith-Lemli-Opitz syndrome, using filter-paper treated with butylated hydroxytoluene.
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.
Hypercortisolism and hypothyroidism in an infant with Smith-Lemli-Opitz syndrome.
Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS).
Porter FD, Smith-Lemli-Opitz syndrome, pathogenesis, diagnosis and management Europ J Hum Genet.
Smith-Lemli-Opitz syndrome (SLOS) [5] is a serious disorder associated with dysmorphology and mental retardation.
Doctors who were treating her told her mum Anita, 18, that the condition Smith-Lemli-Opitz Syndrome (SLOS) meant she only had two weeks to live.
1]H-NMR spectroscopy has been applied successfully in the diagnosis of the Smith-Lemli-Opitz syndrome (SLOS) (10, 11).
While trisomy 13 and 18 and diabetes (if it's well controlled) are unlikely to cause a recurrence of holoprosencephaly, the chance of having a second fetus in families with the HPE3 gene or a history of Smith-Lemli-Opitz syndrome ranges from 25% to 50%.
A recently published screening algorithm for Smith-Lemli-Opitz syndrome (a disorder of cholesterol biosynthesis) relies on the finding of an isolated low uE3 concentration in the presence of AFP and hCG concentrations close to their respective median values (6).
They also want to know about the risk of Smith-Lemli-Opitz syndrome, which affects one of their siblings.
1] described a syndrome, now generally referred to as the Smith-Lemli-Opitz syndrome (SLO), characterized by a number of birth defects affecting nearly every organ system?