Title

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

Document Type

Journal Article

Publication Date

11-2015

Journal

Journal of Inherited Metabolic Disease

Volume

38

Issue

6

Inclusive Pages

1041-1057

DOI

10.1007/s10545-015-9839-3

Keywords

Amino Acid Metabolism, Inborn Errors--diagnosis; Brain Diseases, Metabolic--diagnosis; Glutaryl-CoA Dehydrogenase--deficiency; Hyperammonemia--diagnosis; Ornithine Carbamoyltransferase Deficiency Disease--diagnosis; Urea Cycle Disorders, Inborn--diagnosis

Peer Reviewed

1