Neutropenia, severe congenital, autosomal recessive 3 ( HAX1) Neutropenia, severe congenital, autosomal recessive 4 ( G6PC3) Neutropenia, severe congenital, X-linked ( WAS
[en.praenatal-medizin.de]
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]