Physical examination of patients with glycogen storage disease type 1 is usually remarkable for protruding abdomen due to marked hepatomegaly, short stature, doll-like facial appearance, truncal obesity, and wasted muscles.
Glycogen storage disease type I physical examination
Glycogen storage disease type II physical examination
Glycogen storage disease type III physical examination
Glycogen storage disease type II echocardiography or ultrasound
Fabry's disease physical examination
Glucose-6-phosphate dehydrogenase deficiency physical examination
Fanconi syndrome physical examination
Hemochromatosis electrocardiogram