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Association for Glycogen Storage Disease
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Report on the EUROMAC McArdle Exercise Testing Workshop, Madrid, Spain, 11–12 July 2014

Journal Article published Sep 2015 in Neuromuscular Disorders volume 25 issue 9 on pages 739 to 745

Research funded by European Commission's Directorate General for Health and Consumers (2012 12 14) | Association for Glycogen Storage Disease | CAPES Foundation | Muscular Dystrophy UK (RA2/906/2) | European Union (2012 12 14) | Fondo de Investigaciones Sanitarias (FIS) (PI12/00914)

Authors: Ros Quinlivan, Alejandro Lucia, Renata S. Scalco, Alfredo Santalla, Jatin Pattni, Richard Godfrey, Ramon Marti

Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene

Journal Article published Mar 2014 in Molecular Genetics and Metabolism volume 111 issue 3 on pages 309 to 313

Research funded by Association for Glycogen Storage Disease | YT and Alice Chen Pediatric Genetics and Genomics Center at Duke | National Institutes of Health (NIH)/NCATS Clinical and Translational Science Award | Matthew's GSD Type IX Fund | Sturtz GSD Research Fund

Authors: Deeksha S. Bali, Jennifer L. Goldstein, Keri Fredrickson, Catherine Rehder, Anne Boney, Stephanie Austin, David A. Weinstein, Richard Lutz, Avihu Boneh, Priya S. Kishnani

Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency

Journal Article published Dec 2011 in Molecular Genetics and Metabolism volume 104 issue 4 on pages 691 to 694

Research funded by Association for Glycogen Storage Disease

Authors: Samira Achouitar, Jennifer L. Goldstein, Miski Mohamed, Stephanie Austin, Keri Boyette, Francoise M. Blanpain, Catherine W. Rehder, Priya S. Kishnani, Saskia B. Wortmann, Martin den Heijer, Dirk J. Lefeber, Ron A. Wevers, Deeksha S. Bali, Eva Morava