Role of biomarkers of inflammation and MRI technique for the early detection of cystinosis-associated myopathy
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...
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SpringerOpen,
2024-09-01T00:00:00Z.
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