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[64], treatment with acetyl-l-carnitine (500 mg twice daily intramuscularly for 10 days followed by 2000 mg daily administered orally for 355 days) resulted in improvement in neurophysiological parameters and pain reduction over a 1-year period [64]
(43(2)):290-296 doi:10.1002/jimd.12158
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Functional testing provides the clinical clarity needed to guide detoxification strategies and nutrient support tailored to each patients biochemical profile
Moreover, only 54% of patients in those economics have access to oral cysteamine therapy, and there is limited access to cysteamine eye drops, supportive therapies, and standard diagnostic and monitoring tools, all of which are essential for the prevention of disease progression and extended lifespan [159]
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