Ornithine transcarbamylase deficiency: A diagnostic odyssey
J Inherit Metab Dis
.
2022 Jul;45(4):661-662.
doi: 10.1002/jimd.12530.
Epub 2022 Jul 10.
Authors
Ina Knerr
1
2
,
David Cassiman
3
Affiliations
1
National Centre for Inherited Metabolic Disorders, Children's Health Ireland (CHI) at Temple Street, Dublin, Republic of Ireland.
2
University College Dublin (UCD), UCD School of Medicine, Dublin, Republic of Ireland.
3
Department of Gastroenterology-Hepatology and Metabolic Center, University Hospital Leuven, Leuven, Belgium.
PMID:
35734906
PMCID:
PMC9541173
DOI:
10.1002/jimd.12530
No abstract available
Publication types
Editorial
Comment
MeSH terms
Humans
Ornithine Carbamoyltransferase
Ornithine Carbamoyltransferase Deficiency Disease* / diagnosis
Ornithine Carbamoyltransferase Deficiency Disease* / genetics
Substances
Ornithine Carbamoyltransferase