Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities

Corresponding author: Dariusz Rokicki MD, PhD Department of Pediatrics, Nutrition and Metabolic Disorders Children’s Memorial Health Institute Al. Dzieci Polskich 20 04-730 Warsaw, Poland Phone: +48 22 815 75 45 E-mail: [email protected] 1 Department of Pediatrics, Nutrition and Metabolic Disorders, the Children’s Memorial Health Institute, Warsaw, Poland 2 Department of Pathology, the Children’s Memorial Health Institute, Warsaw, Poland 3 Department of Medical Biology, Molecular Biology Laboratory, Institute of Cardiology, Warsaw, Poland 4 Department of Medical Genetics, the Children’s Memorial Health Institute, Warsaw, Poland 5 University Children’s Hospital and Molecular Genetics and Metabolism Laboratory, Munich, Germany 6 Molecular Genetics and Metabolism Laboratory, Munich, Germany 7 Department of Biochemistry, Radioimmunology and Experimental Medicine, the Children’s Memorial Health Institute, Warsaw, Poland 8 Cardiac Magnetic Resonance Unit, Institute of Cardiology, Warsaw, Poland 9 Department of Medical Genetics, Centre of Biostructure, Medical University of Warsaw, Warsaw, Poland 10 Unit for Screening Studies in Inherited Cardiovascular Diseases, Institute of Cardiology, Warsaw, Poland