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

Affiliations

• 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.