Pompe witt
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Pompe witt
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WebAug 16, 2024 · Penyakit Pompe atau Pompe disease adalah kelainan atau cacat pada bayi saat lahir yang terjadi karena kurangnya produksi enzim GAA. Enzim GAA seharusnya … WebThe infantile form of Pompe disease (type II glycogen storage disease) is usually fatal, and most patients die within 1 year of birth. Enlarged heart with progressive obstruction to left …
WebApr 13, 2024 · Recognizing International Pompe Day. Pompe disease is a genetic, progressively debilitating and often fatal neuromuscular disease that affects an estimated … WebJan 19, 2024 · The gene linked to Pompe disease is known as the GAA gene. In healthy people, it produces the GAA enzyme. This enzyme breaks down a sugar called glycogen …
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