Glycogen storage disease due to muscle beta-enolase deficiency
MONDO:0013046Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.
Also known as: GSD due to muscle beta-enolase deficiency, GSDXIII, glycogen storage disease due to muscle beta-enolase deficiency, glycogen storage disease type 13, glycogenosis due to muscle beta-enolase deficiency, glycogenosis type 13, muscle enolase deficiency, muscular enolase deficiency
3 clinical trials for this condition and its sub-types, 1 tagged with Glycogen storage disease due to muscle beta-enolase deficiency itself.
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Scientists launch major study to unravel mysterious metabolism disorders
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Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Aug 21, 2026 00:00 UTC
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Sponsor: Institute of Liver and Biliary Sciences, India • Aim: Knowledge-focused
Last updated Aug 07, 2026 00:00 UTC
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Scientists launch Largest-Ever study of Ultra-Rare GSDs
Knowledge-focused Recruiting nowThis study tracks 200 people with ultra-rare glycogen storage diseases (GSDs) like types 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome, and Danon disease. Researchers will collect medical records and other data to see how these conditions progress over time. No treatments or dru…
Sponsor: Duke University • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:08 UTC