Volume 6 - Issue 2 Articles
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ArticleDecember 08, 2023 | Pages : 205 - 450Abstract 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, and.....
Volume 6 - Issue 1 Articles
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ArticleOctober 30, 2023 | Pages : 205 - 450Abstract 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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ArticleNovember 02, 2023 | Pages : 205 - 450Abstract 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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ArticleNovember 01, 2023 | Pages : 205 - 450Abstract 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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ArticleJuly 31, 2023 | Pages : 205 - 450Abstract 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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ArticleJuly 31, 2023 | Pages : 205 - 450Abstract 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.....
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