Characterization of the biochemical abnormality in the Smith-Lemli-Opitz syndrome

Efficacy and safety of ezetimibe 40 mg vs. ezetimibe 10 mg in the treatment of patients with homozygous sitosterolaemia.

International journal of clinical practice·2008

Results of a phase I multiple-dose clinical study of ursodeoxycholic Acid.

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology·2004

Ezetimibe effectively reduces plasma plant sterols in patients with sitosterolemia.

Circulation·2004

Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease.

American journal of medical genetics. Part A·2003

Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.

Nature genetics·2003

Fecal bile acid concentrations in a subpopulation of the wheat bran fiber colon polyp trial.

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology·2003