Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 2 (of 2 Records) |
Query Trace: L-2-hydroxyglutaric Aciduria[original query] |
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Isocitrate dehydrogenase 1/2 mutational analyses and 2-hydroxyglutarate measurements in Wilms tumors. Pediatric blood & cancer 2011 1 56 (3): 379-83. Rakheja Dinesh, Mitui Midori, Boriack Richard L, DeBerardinis Ralph |
Loss of function variants in L2HGDH gene causing L-2-hydroxyglutaric aciduria. Acta neurologica Belgica 2023 6 . Anikha Bellad, Vikram V Holla, Riyanka Kumari, Nitish Kamble, Ravi Yadav, Akhilesh Pandey, Pramod Kumar Pal, Babylakshmi Muthusa |
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