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7. Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria. Peng W; Ma XW; Yang X; Zhang WQ; Yan L; Wang YX; Liu X; Wang Y; Feng ZC BMC Med Genet; 2018 Sep; 19(1):167. PubMed ID: 30217188 [TBL] [Abstract][Full Text] [Related]
8. [L-2 hydroxyglutaric aciduria in a patient with Klinefelter syndrome]. Pascual-Castroviejo I; Pascual-Pascual SI; Velázquez Fragua R; Ferrer I; Ugarte M; García-Segura JM Neurologia; 2005 Mar; 20(2):90-3. PubMed ID: 15726477 [TBL] [Abstract][Full Text] [Related]
9. L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings. Seijo-Martínez M; Navarro C; Castro del Río M; Vila O; Puig M; Ribes A; Butron M Arch Neurol; 2005 Apr; 62(4):666-70. PubMed ID: 15824270 [TBL] [Abstract][Full Text] [Related]
10. Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds. Faiyaz-Ul-Haque M; Al-Sayed MD; Faqeih E; Jamil M; Saeed A; Amoudi MS; Kaya N; Abalkhail H; Al-Abdullatif A; Rashed M; Al-Owain M; Peltekova I; Zaidi SH Ann Saudi Med; 2014; 34(2):107-14. PubMed ID: 24894778 [TBL] [Abstract][Full Text] [Related]
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13. L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model. Penderis J; Calvin J; Abramson C; Jakobs C; Pettitt L; Binns MM; Verhoeven NM; O'Driscoll E; Platt SR; Mellersh CS J Med Genet; 2007 May; 44(5):334-40. PubMed ID: 17475916 [TBL] [Abstract][Full Text] [Related]
14. L-2-hydroxyglutaric aciduria diagnosed in a young adult with progressive cerebellar ataxia and facial dyskinesia. Marcel C; Mallaret M; Lagha-Boukbiza O; Kremer S; Echaniz-Laguna A; Tranchant C Rev Neurol (Paris); 2012 Feb; 168(2):187-91. PubMed ID: 22030381 [TBL] [Abstract][Full Text] [Related]
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18. Facial anomalies in D-2-hydroxyglutaric aciduria. Amiel J; de Lonlay P; Francannet C; Picard A; Bruel H; Rabier D; Le Merrer M; Verhoeven N; Jakobs C; Lyonnet S; Munnich A Am J Med Genet; 1999 Sep; 86(2):124-9. PubMed ID: 10449646 [TBL] [Abstract][Full Text] [Related]
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