Recent Articles
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September 29, 2023 Research Article
Abstract 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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October 03, 2023 Research Article
Abstract 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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October 03, 2023 Research Article
Abstract 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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December 13, 1901 Case Report
Abstract 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 10, 2023 Case Report
Abstract 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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July 15, 2022 Short Communication
Abstract Laron syndrome (LS) or primary growth hormone (GH) insensitivity is caused by deletions or mutations in the GH-receptor gene. Its clinical characteristic is dwarfism, acromicria, obesity and protruding forehead. Patients homozygous for these gene def.....
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May 04, 2017 Original Research
Abstract Glioblastoma (GBM) is an important tumor that has prevalence in childhood over adults, whereas many other types of tumor have high incidence after adolescence. It is a rare disease in terms of epidemiology of tumor incidence by age groups. The key ro.....
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March 09, 2017 Case Report
Abstract Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder linked to mutations in the PANK2 gene, presenting with mixed-motor symptoms of dystonia and parkinsonism in childhood to early adulthood. The pantothenate ki.....
