Doctors map the clues to spot a rare genetic disease
NCT ID NCT07274826
Summary
This study aims to better understand how to diagnose Acid Sphingomyelinase Deficiency (ASMD), a rare genetic disorder. Researchers will observe the symptoms and measure specific body changes, like spleen and liver size, in a small group of patients already diagnosed with ASMD. The goal is to gather knowledge to help doctors identify this condition more accurately in the future.
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Contacts and locations
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Locations
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Sohag University Hospital
Sohag, Egypt
Conditions
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