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Pompe disease Pompe disease is a fatal autosomal recessive disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA), leading to intra-lysosomal glycogen accumulation in multiple tissue types, particularly cardiac, skeletal, and smooth muscle [152–154]
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Avoid opening duplicate cases unless the support team requests it. Keep a brief timeline if the case involves several stages.
Check whether the intended scope or number of users is covered when relevant. Place the order using confirmed authority, requirements, and administrative details.
Ask about any proposed replacement before accepting it. Avoid relying on unofficial promises from unrelated third parties.
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