Multiple Phenotypes in Phosphoglucomutase 1 DeficiencyLaura C. Tegtmeyer, Thorsten Marquardt, Stephan Rust et al.|New England Journal of Medicine|2014Cited by 287
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) geneLinda Tyfield, Ma Dolores Boleda, Juergen Reichardt et al.|Human Mutation|1999Cited by 164
Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalitiesEdyta Szymańska, Dariusz Rokicki, Teodor Podskarbi et al.|Archives of Medical Science|2018Cited by 33