UCDC: Exploring Risk Factors in Asymptomatic Females with Ornithine Transcarbamylase Deficiency
Jun 26, 2024 ·
2m 5s
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Description
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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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
Information
| Author | RDCRN |
| Organization | RDCRN |
| Website | - |
| Tags |
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