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Enzyme Replacement Therapy (ERT) on Heart Function Changes the Outcome in Patients with Infantile-Onset Pompe Disease: A Familial History

Background. Lysosomal acid alpha-glucosidase (GAA) deficiency, also known as Pompe disease, is an autosomal recessive disorder that leads to the accumulation of glycogen in lysosomes and cytoplasm, resulting in tissue destruction. Infantile-onset GAA deficiency is characterized by cardiomyopathy and...

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書誌詳細
主要な著者:	Marco Lecis (著者), Katia Rossi (著者), Maria Elena Guerzoni (著者), Ilaria Mariotti (著者), Lorenzo Iughetti (著者)
フォーマット:	図書
出版事項:	Hindawi Limited, 2023-01-01T00:00:00Z.
主題:	article
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