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1.
D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.
Hum Mutat
; 40(7): 975-982, 2019 07.
Article
in English
| MEDLINE | ID: mdl-30908763
2.
Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.
Am J Hum Genet
; 92(4): 627-31, 2013 Apr 04.
Article
in English
| MEDLINE | ID: mdl-23561848
3.
Progress in understanding 2-hydroxyglutaric acidurias.
J Inherit Metab Dis
; 35(4): 571-87, 2012 Jul.
Article
in English
| MEDLINE | ID: mdl-22391998
4.
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
Hum Mutat
; 31(3): 279-83, 2010 Mar.
Article
in English
| MEDLINE | ID: mdl-20020533
5.
IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.
Science
; 330(6002): 336, 2010 Oct 15.
Article
in English
| MEDLINE | ID: mdl-20847235
6.
Evaluation of the sensitivity of miniaturized liquid chromatography-electrospray ionization-mass spectrometry for pharmaceutical analysis.
J Sep Sci
; 28(14): 1796-802, 2005 Sep.
Article
in English
| MEDLINE | ID: mdl-16224975
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