Refsum's Disease—Use of the Intestinal Lipase Inhibitor, Orlistat, as a Novel Therapeutic Approach to a Complex Disorder

by Nimalie J. Perera, Barry Lewis, Huy Tran, Michael Fietz, David R. Sullivan
Published 2011-01-01

Study protocol of a multicentre cohort pilot study implementing an expanded preconception carrier-screening programme in metropolitan and regional Western Australia

by Royston Ong, Samantha Edwards, Denise Howting, Benjamin Kamien, Karen Harrop, Gianina Ravenscroft, Mark Davis, Michael Fietz, John Beilby, Nigel Laing
Published 2019-06-01

Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1

by Jessie C. Jacobsen, Emma Glamuzina, Juliet Taylor, Brendan Swan, Shona Handisides, Callum Wilson, Michael Fietz, Tessa van Dijk, Bart Appelhof, Rosamund Hill, Rosemary Marks, Donald R. Love, Stephen P. Robertson, Russell G. Snell, Klaus Lehnert
Published 2015-01-01