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The British Journal of Dermatology|July 21, 2005
Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancerN A Alam, S Olpin, I M LeighJournal of Inherited Metabolic Disease|February 24, 2001
Trifunctional protein deficiency: three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutationA Chakrapani, S Olpin, M Cleary, et al.Journal of Inherited Metabolic Disease|July 26, 2006
Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infantsS Vijay, A Patterson, S Olpin, et al.Neuropediatrics|November 10, 2004
Short-chain acyl-CoA dehydrogenase deficiency associated with early onset severe axonal neuropathyM A Kurian, L Hartley, Z Zolkipli, et al.Journal of Clinical Pathology|August 1, 1993
Familial hypercholesterolaemia: pilot study to identify children at riskC J Taylor, S Olpin, J Rattenbury, et al.Canadian Journal of Public Health = Revue Canadienne De Sante Publique|September 5, 2008
Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, CanadaGabriella A Horvath, A G F Davidson, Sylvia G Stockler-Ipsiroglu, et al.American Journal of Human Genetics|November 14, 2007
Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapyS Gobin-Limballe, F Djouadi, F Aubey, et al.American Journal of Human Genetics|February 11, 1999
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiencyB S Andresen, S Olpin, B J Poorthuis, et al.Journal of Inherited Metabolic Disease|December 23, 2006
Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiencyG S Salomons, C Jakobs, L Landegge Pope, et al.Human Molecular Genetics|July 1, 2005
Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutationsP J Pollard, J J Brière, N A Alam, et al.Pageof 2