The need for biochemical testing in beta‐enolase deficiency in the genomic era

by Ralph Wigley, Renata S. Scalco, Alice R. Gardiner, Richard Godfrey, Suzanne Booth, Richard Kirk, David Hilton‐Jones, Henry Houlden, Simon Heales, Ros Quinlivan
Published 2019-11-01

Energy metabolism during exercise in patients with β‐enolase deficiency (GSDXIII)

by Astrid Emilie Buch, Olimpia Musumeci, Ralph Wigley, Mads Peter Godtfeldt Stemmerik, Anne‐Sofie Vibæk Eisum, Karen Lindhardt Madsen, Nicolai Preisler, David Hilton‐Jones, Ros Quinlivan, Antonio Toscano, John Vissing
Published 2021-09-01