Publications




Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.
Mol Genet Metab 2014 Mar 19;111(3):309-313. Epub 2013 Dec 19.
Department of Pediatrics, Box 103856, Duke University Health System, Durham, NC 27710, USA. Electronic address:

The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients.
Acta Neuropathol Commun 2014 Jan 2;2. Epub 2014 Jan 2.
Laboratory of Muscle Stem Cells and Gene Regulation, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA.

Menorrhagia in patients with type I glycogen storage disease.
Obstet Gynecol 2013 Dec;122(6):1246-54
Departments of Pediatrics, Divisions of Medical Genetics, Duke University Medical Center, Durham, North Carolina, and University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania; and the Department of Obstetrics and Gynecology, University of Virginia School of Medicine, Charlottesville, Virginia.

Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.
Mol Genet Metab 2011 Dec 26;104(4):691-4. Epub 2011 Aug 26.
Department of Pediatrics, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, The Netherlands.



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