UCDC: Exploring Risk Factors in Asymptomatic Females with Ornithine Transcarbamylase Deficiency

26 giu 2024 · 2 min. 5 sec.

Descrizione

New research from the Urea Cycle Disorders Consortium (UCDC). This summary is based on a paper published in the journal Molecular Genetics and Genomic Medicine on April 17, 2024, titled...

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New research from the Urea Cycle Disorders Consortium (UCDC). This summary is based on a paper published in the journal Molecular Genetics and Genomic Medicine on April 17, 2024, titled "Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database."

Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/mgg3.2443

Learn more about UCDC: https://ucdc.rarediseasesnetwork.org

Read more about this research from the National Urea Cycle Disorders Foundation: https://nucdf.org/news.html/article/2024/06/28/new-research-shows-female-otc-carriers-heterozygous-females-face-more-symptoms-risks-than-expected

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