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Glycogen storage disease type Ha(GSD la), also known as generalized glycogenosis, cardiomegalic glycogenosis, and Pompe disease, is a very rare form of glycogenosis. The authors reported a case of GSD J a in an eight months old girl who presented with respiratory problems, marked hypotonia, cardiomegaly, and macroglossia. The diagnosis was made on clinical grounds including pathologic findings of muscle... |
