Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient. Ondruskova N, Honzik T, Vondrackova A, Tesarova M, Zeman J, Hansikova H. Case Reports 2014; 35(2): 137-141 PubMed PMID: 24878975 Keywords: Central Nervous System:physiopathology, Child, Glycogen Storage Disease:complications, Humans, Intellectual Disability:complications, Male, Microcephaly:complications, Mutation, Missense, Phenotype, Phosphoglucomutase:genetics,. Citation OBJECTIVES: A 10-year-old boy presented with cleft palate, hepatopathy, cholecystolithiasis, myopathy, coagulopathy, hyperlipidemia, hypog..... Read abstract Full text PDF