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Gaucher patients who develop parkinsonian features, dementia, or both, are amid the more atypical and uncommon Gaucher phenotypes
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In particular, identifications of age-related metabolic phenotypes or biomarkers that are closely correlated with overall fitness are increasingly being recognized as therapeutic targets
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The diagnosis of glutathione synthetase deficiency is established by: Low activity of glutathione synthetase in cultured skin fibroblasts and/or red blood cells
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