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- W2166904331 endingPage "539" @default.
- W2166904331 startingPage "517" @default.
- W2166904331 abstract "Several single gene disorders share clinical and radiologic characteristics with multiple sclerosis and have the potential to be overlooked in the differential diagnostic evaluation of both adult and paediatric patients with multiple sclerosis. This group includes lysosomal storage disorders, various mitochondrial diseases, other neurometabolic disorders, and several other miscellaneous disorders. Recognition of a single-gene disorder as causal for a patient’s ‘multiple sclerosis-like’ phenotype is critically important for accurate direction of patient management, and evokes broader genetic counselling implications for affected families. Here we review single gene disorders that have the potential to mimic multiple sclerosis, provide an overview of clinical and investigational characteristics of each disorder, and present guidelines for when clinicians should suspect an underlying heritable disorder that requires diagnostic confirmation in a patient with a definite or probable diagnosis of multiple sclerosis." @default.
- W2166904331 created "2016-06-24" @default.
- W2166904331 creator A5012181574 @default.
- W2166904331 creator A5025501697 @default.
- W2166904331 creator A5026146770 @default.
- W2166904331 creator A5037492480 @default.
- W2166904331 date "2015-01-29" @default.
- W2166904331 modified "2023-10-16" @default.
- W2166904331 title "Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis" @default.
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