Articles by author - Nina Ondruskova

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.....

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