Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database

Sen, K., Izem, R., Long, Y., Jiang, J., Konczal, L. L., McCarter, R. J., Gropman, A. L., & Bedoyan, J. K. (2024). Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database. Molecular Genetics & Genomic Medicine, 12(4). Portico. https://doi.org/10.1002/mgg3.2443
Authors:
Kuntal Sen
Rima Izem
Yuelin Long
Jiji Jiang
Laura L Konczal
Robert J McCarter
Andrea L Gropman
Jirair K Bedoyan
Affiliated Authors:
Yuelin Long
Columbia Affiliation:
Subjects:
Ornithine Carbamoyltransferase Deficiency Disease (MeSH)
Author Keywords:
diffusion tensor imaging
functional mri
functional near-infrared spectroscopy
hyperammonemia
magnetic resonance spectroscopy
ornithine transcarbamylase deficiency
prefrontal cortex
urea cycle disorder
urea cycle disorders consortium
functional near‐infrared spectroscopy
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Publication Type:
Article
Unique ID:
10.1002/mgg3.2443
PMID:
38634223
DOI:
10.1002/mgg3.2443
Journal:
Molecular Genetics and Genomic Medicine
Publication Date:
Data Source:
PubMed
Source Link:
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Record Created: