Biomedical Research and Pathophysiology

Biomedical Research and Pathophysiology is a research topic within Pathology and Forensic Medicine. Science Explorer counts 14k research works in it since 1950. 10.2% of them reached the world's top 10% most cited for their field and year.

This cluster of papers focuses on nephropathic cystinosis, a rare genetic lysosomal storage disorder. The research covers various aspects including the pathogenesis, treatment with cysteamine therapy, complications in multiple organs (especially renal and ocular), molecular genetics involving CTNS gene mutations, and the impact on cellular processes such as autophagy and mitochondrial function.

• Cystinosis
• Cysteamine Therapy
• Lysosomal Dysfunction
• Pentose Phosphate Pathway
• CTNS Gene Mutations
• Renal Complications
• Ocular Manifestations
• Autophagy Impairment
• Transaldolase Deficiency
• Mitochondrial Dysfunction