New metabolomic test could revolutionize diagnosis of rare metabolic disorders
NCT ID NCT04201067
First seen Nov 01, 2025 · Last updated May 23, 2026 · Updated 26 times
Summary
This study tested a new global metabolomic approach to diagnose inborn errors of metabolism, such as congenital disorders of glycosylation. Researchers measured specific sugar-related molecules in blood and urine from 240 participants to see if this method works better than traditional tests. The goal is to develop more accurate biomarkers for diagnosis and treatment monitoring.
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Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
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Contacts and locations
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Locations
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Mayo Clinic in Rochester
Rochester, Minnesota, 55905, United States
Conditions
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