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Article

The challenge of understanding and predicting phenotypic diversity in urea cycle disorders.

Journal of inherited metabolic disease - 1 Nov 2023

Posset Roland, Zielonka Matthias, Gleich Florian, Garbade Sven F, Hoffmann Georg F, Kölker Stefan

Abstract excerpt

The Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) are the worldwide largest databases for individuals with urea cycle disorders (UCDs) comprising longitudinal data from more than 1100 individuals with an overall long-term follow-up of approximately 25 years. However, heterogeneity of the clinical phenotype as well as different...

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PMID: 37702610
DOI: 10.1002/jimd.12678

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