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Editorial
. 2022 Jul;45(4):661-662.
doi: 10.1002/jimd.12530. Epub 2022 Jul 10.

Ornithine transcarbamylase deficiency: A diagnostic odyssey

Ina Knerr  1   2 , David Cassiman  3
Affiliations
Editorial

Ornithine transcarbamylase deficiency: A diagnostic odyssey

Ina Knerr et al. J Inherit Metab Dis. 2022 Jul.
No abstract available

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References

    1. Hertzog A, Selvanathan A, Halligan R, et al. A serendipitous journey to a promoter variant: the c.‐106C>A variant and its role in late‐onset ornithine transcarbamylase deficiency. J Inherit Metab Dis Rep, in press. 2022. - PMC - PubMed
    1. Han S, Anderson K, Bjornsson H, Longo N, Valle D. A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia. J Inherit Metab Dis, in press. 2022. - PMC - PubMed
    1. Jang YJ, LaBella AL, Feeney TP, et al. Disease‐causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene. Hum Mutat. 2018;39(4):527‐536. - PMC - PubMed

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