Literature DB >> 22840416

L-2 hydroxyglutaric aciduria as a rare cause of leukencephalopathy in adults.

C Weimar1, M Schlamann, I Krägeloh-Mann, L Schöls.   

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Year:  2012        PMID： 22840416     DOI： 10.1016/j.clineuro.2012.06.040

Source DB:  PubMed          Journal:  Clin Neurol Neurosurg        ISSN： 0303-8467            Impact factor:   1.876


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  3 in total

1.  Postural tremor in L-2-hydroxyglutaric aciduria is associated with cerebellar atrophy.

Authors:  Aysegul Gunduz; Ayse Cigdem Aktuglu-Zeybek; Damla Tezer; Ece Oge Enver; Tanyel Zubarioglu; Ertugrul Kiykim; Meral E Kiziltan
Journal:  Neurol Sci       Date:  2021-08-24       Impact factor: 3.307

2.  A novel compound heterozygous mutation in a Chinese boy with L-2-hydroxyglutaric aciduria: a case study.

Authors:  Hongfei Tai; Zaiqiang Zhang
Journal:  BMC Neurol       Date:  2015-07-25       Impact factor: 2.474

3.  A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair.

Authors:  Rim Rzem; Younes Achouri; Etienne Marbaix; Olivier Schakman; Elsa Wiame; Sandrine Marie; Philippe Gailly; Marie-Françoise Vincent; Maria Veiga-da-Cunha; Emile Van Schaftingen
Journal:  PLoS One       Date:  2015-03-12       Impact factor: 3.240
  3 in total

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