Role of biomarkers of inflammation and MRI technique for the early detection of cystinosis-associated myopathy

• Autori principali: Rasha Helmy (Autore), Rasha Selim Mahmoud (Autore), Mohamed A. Elmonem (Autore), Sally Emadeldin (Autore), Neveen Abd Elmonem Soliman (Autore)
• Natura: Libro
• Pubblicazione: SpringerOpen, 2024-09-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

Abstract Background Cystinosis is an autosomal recessive lysosomal storage disorder caused by cystine crystals accumulation within lysosomes resulting in multi-organ dysfunction. Infantile nephropathic cystinosis is the most common phenotype of the disease. Cystinosis distal myopathy was first descr...