OTC gene duplication as the possible cause of massive hyperammonaemia with a fatal prognosis

OTC gene duplication as the possible cause of massive hyperammonaemia with a fatal prognosis

Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle disorder. It may occur due to various changes to the OTC gene located on the X chromosome. Many sequence variants in the OTC gene result in different severity and require different types of molecular testing. We present a fami...

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Bibliographic Details
Main Authors: Borkowska Natalia, Kaluzny Lukasz, Rokicki Dariusz, Szmida Elzbieta, Kowalski Pawel, Dus-Zuchowska Monika, Skiba Pawel, Ciara Elzbieta, Biela Mateusz, Rydzanicz Malgorzata, Ploski Rafal, Smigiel Robert
Format: Article
Language:English
Published: Elsevier 2024-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
OTC gene
OTC deficiency
Duplication
Hyperammonaemia
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426924000995
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