607091 Ehlers-Danlos syndrome, progeroid form, 130070 Hypercholanemia, familial, 607748 Maple syrup urine disease, type Ia, 248600 Maple syrup urine disease, type Ib, 248600 Hyperbiliverdinemia
[slidedoc.us]
We suggest to test for DK1-CDG in patients with dilated cardiomyopathy.
[paperity.org]
type 2A ( HJV) Hemochromatosis, type 2B ( HAMP) Hemochromatosis, type 3 ( TFR2) Hemochromatosis, type 4 ( SLC40A1) Hemolytic anemia due to adenylate kinase deficiency
[en.praenatal-medizin.de]