The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Kölker, Stefan

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. [electronic resource] - Journal of inherited metabolic disease Nov 2015 - 1041-57 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1573-2665

10.1007/s10545-015-9839-3 doi


Adolescent
Adult
Aged
Amino Acid Metabolism, Inborn Errors--diagnosis
Brain Diseases, Metabolic--diagnosis
Child
Child, Preschool
Europe
Female
Glutaryl-CoA Dehydrogenase--deficiency
Humans
Hyperammonemia--diagnosis
Infant
Infant, Newborn
Intellectual Disability
Male
Middle Aged
Ornithine Carbamoyltransferase Deficiency Disease--diagnosis
Registries
Urea Cycle Disorders, Inborn--diagnosis
Vomiting
Young Adult