Muscle biochemical and pathological diagnosis in Pompe disease.
Journal of neurology, neurosurgery, and psychiatry(2022)
摘要
Muscle pathology is an accurate method to diagnose Pompe disease. It is unlikely that a significant number of patients with Pompe disease are overlooked. Pathological variants were rare, and the majority carried a pseudodeficiency allele, which further supports our conclusion.
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关键词
GENETICS,METABOLIC DISEASE,MUSCLE DISEASE,PATHOLOGY
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