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Journal of Medical Genetics|May 1, 1993
Two cases of 5q deletions in patients with familial adenomatous polyposis: possible link with Caroli's diseaseS V Hodgson, A S Coonar, P J Hanson, et al.Proceedings of the National Academy of Sciences of the United States of America|April 16, 1998
Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiencyE G van Grunsven, E van Berkel, L Ijlst, et al.Nature Genetics|February 2, 2000
Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathyS Ferdinandusse, S Denis, P T Clayton, et al.Journal of Inherited Metabolic Disease|January 8, 2009
A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblastsS J Steinberg, A Snowden, N E Braverman, et al.Journal of Inherited Metabolic Disease|April 5, 2001
Features of carnitine palmitoyltransferase type I deficiencyS E Olpin, J Allen, J R Bonham, et al.Endoscopy|August 21, 2007
Risk factors for complication following ERCP; results of a large-scale, prospective multicenter studyE J Williams, S Taylor, P Fairclough, et al.Journal of Inherited Metabolic Disease|January 12, 2007
Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathyG F Hoffmann, B Schmitt, M Windfuhr, et al.Molecular Genetics and Metabolism|June 28, 2005
Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7M L Cardoso, A Balreira, E Martins, et al.Pageof 13