Recent Articles
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December 08, 2023 Research ArticleAbstract Myotonic dystrophy (DM) is an inherited autosomal dominant disease with progressive myopathy and comorbidities involving multiple organ systems. There is no cure, but a deeper understanding of the patient journey, the use of healthcare resources, a.....
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October 30, 2023 Research ArticleAbstract Objectives: To date, more than 600 different ?-globin gene defects, structural variants, and thalassemias have been described [1]. Thalassemias are mainly produced by greater or lesser extensive deletions or, more rarely, point defects. A variety of.....
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November 02, 2023 Research ArticleAbstract In sickle cell disease, a hereditary hemoglobinopathy, clinically observed disease presentations are the endpoint of a point mutation involving the substitution of glutamic acid with valine at the position 6 of the beta globin chain. With about 4.4 .....
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November 01, 2023 Research ArticleAbstract Pompe disease (PD) is an inherited metabolic disorder caused by a deficiency of acid ?-glucosidase (GAA), leading to lysosomal accumulation of glycogen, mainly in skeletal and cardiac muscles as well as the nervous system. Patients with PD develop c.....
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July 31, 2023 Case ReportAbstract Background: Alport’s syndrome (AS) is a heterogeneous basement membrane disease characterized by hematuria with progressive hereditary nephritis, high-frequency sensorineural hearing loss (SNHL), and pathognomonic ocular lesions. The ocular finding.....
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July 31, 2023 Case ReportAbstract Muscular atrophies are a clinically and heterogeneous group of disorders that all share clinical characteristics of progressive muscular weakness and wasted that involve any type of muscles .the cause of muscle atrophy could be due to acquired or gen.....