Journal article

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

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

Molecular Genetics and Metabolism | ACADEMIC PRESS INC ELSEVIER SCIENCE | Published : 2014

Grants

Awarded by National Institutes of Health (NIH)/NCATS Clinical and Translational Science Award to the University of Florida


Awarded by NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES


Funding Acknowledgements

We would like to thank the patients and families who participated in this research study. We are grateful to the Association for Glycogen Storage Diseases, US and the YT and Alice Chen Pediatric Genetics and Genomics Center at Duke for funding this research. Support for this project was also provided by the National Institutes of Health (NIH)/NCATS Clinical and Translational Science Award to the University of Florida UL1 TR000064, Matthew's GSD Type IX Fund, and the Sturtz GSD Research Fund managed by the University of Florida Foundation.