P-18 Three Body Problem Patient: Ehler-Danlos Syndrome Combined With Hypophosphatasia And Fatty Acid Oxidation Defect
January 2025
in “
JCEM Case Reports
”
Studysummary This report describes a 27-year-old patient with Ehler-Danlos syndrome who also presented with hypophosphatasia and mastocytosis, and suggests enzyme replacement therapy might alleviate symptoms in such overlapping genetic conditions.
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