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Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
Inherited Neuropathy Consortium
Neurology
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Article
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peer-review
84
Scopus citations
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Medicine & Life Sciences
L-Iditol 2-Dehydrogenase
100%
Sorbitol
65%
Mutation
35%
polyol
35%
Genes
25%
Drosophila
23%
Fibroblasts
18%
Aldehyde Reductase
17%
Diabetic Neuropathies
14%
Fructose
14%
Fasting
10%
Eye
7%
Phenotype
7%
Enzymes
6%
Serum
5%
Proteins
4%
Therapeutics
2%