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

• Principais autores: Rasha Helmy (Autor), Rasha Selim Mahmoud (Autor), Mohamed A. Elmonem (Autor), Sally Emadeldin (Autor), Neveen Abd Elmonem Soliman (Autor)
• Formato: Livro
• Publicado em: SpringerOpen, 2024-09-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: 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...