| 1 |
Manifestation of recessive combined D-2-, L-2-hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome. ( 29265763
)
|
Eguchi M....Eguchi-Ishimae M.
|
2018 |
| 2 |
Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation. ( 29654543
)
|
|
2018 |
| 3 |
Widespread and debilitating hemangiomas in a patient with enchondromatosis and D-2-hydroxyglutaric aciduria. ( 29744569
)
|
|
2018 |
| 4 |
A novel compound heterozygous mutation of the L2HGDH gene in a Chinese boy with L-2-hydroxyglutaric aciduria: case report and literature review. ( 29980873
)
|
Zhang Y...Chen Y
|
2018 |
| 5 |
Computational approach to unravel the impact of missense mutations of proteins (D2HGDH and IDH2) causing D-2-hydroxyglutaric aciduria 2. ( 29987523
)
|
Thirumal Kumar D...Zayed H
|
2018 |
| 6 |
A Drosophila model of combined D-2- and L-2-hydroxyglutaric aciduria reveals a mechanism linking mitochondrial citrate export with oncometabolite accumulation. ( 30108060
)
|
Li H...Tennessen JM
|
2018 |
| 7 |
Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria. ( 30217188
)
|
Peng W...Feng ZC
|
2018 |
| 8 |
Teaching NeuroImages: Imaging in metabolic leukoencephalopathy, L-2-hydroxyglutaric aciduria. ( 30323080
)
|
Sivadasan S...Sundaram S
|
2018 |
| 9 |
Oxidative stress among L-2-hydroxyglutaric aciduria disease patients: evaluation of dynamic thiol/disulfide homeostasis. ( 30499066
)
|
Cansever MS...Aktuglu-Zeybek C
|
2018 |
| 10 |
Experimental evidence of oxidative stress in patients with l-2-hydroxyglutaric aciduria and that l-carnitine attenuates in vitro DNA damage caused by d-2-hydroxyglutaric and l-2-hydroxyglutaric acids. ( 28396261
)
|
Rodrigues D.G.B....Vargas C.R.
|
2017 |
| 11 |
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants. ( 29238895
)
|
Pop A....Salomons G.S.
|
2017 |
| 12 |
An L-2-Hydroxyglutaric Aciduria Case Presented With Acute Bacterial Meningitis. ( 28141777
)
|
|
2017 |
| 13 |
[Analysis of L2HGDH gene mutation in a patient with 2-hydroxyglutaric aciduria]. ( 26829733
)
|
Deng Y....Li C.
|
2016 |
| 14 |
Clinical features and disease progression of L-2-hydroxyglutaric aciduria in 27 Staffordshire bull terriers. ( 27729589
)
|
Shea A....Beltran E.
|
2016 |
| 15 |
A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model. ( 27469509
)
|
|
2016 |
| 16 |
In-vivo brain H1-MR-Spectroscopy identification and quantification of 2-hydroxyglutarate in L-2-Hydroxyglutaric aciduria. ( 27543339
)
|
|
2016 |
| 17 |
Why is L-2 hydroxyglutaric aciduria relevant for a general practitioner? ( 27885126
)
|
|
2016 |
| 18 |
Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria. ( 25614306
)
|
Prasun P....McDonald M.
|
2015 |
| 19 |
A novel compound heterozygous mutation in a Chinese boy with L-2-hydroxyglutaric aciduria: a case study. ( 26208971
)
|
Tai H....Zhang Z.
|
2015 |
| 20 |
White matter abnormalities in an adult patient with l-2-hydroxyglutaric aciduria. ( 25982940
)
|
Yamamoto T....Matsumoto N.
|
2015 |
| 21 |
A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair. ( 25763823
)
|
Rzem R....Van Schaftingen E.
|
2015 |
| 22 |
Gliomatosis cerebri in L-2-hydroxyglutaric aciduria. ( 25997888
)
|
London F....Jeanjean A.
|
2015 |
| 23 |
An interesting case of metabolic dystonia: L-2 hydroxyglutaric aciduria. ( 24753671
)
|
Balaji P....Panigrahi D.
|
2014 |
| 24 |
L-2-Hydroxyglutaric aciduria: a case report. ( 25033591
)
|
JoviA8 N.J....Koprivsek K.
|
2014 |
| 25 |
Successive distinct high-grade gliomas in L-2-hydroxyglutaric aciduria. ( 25338511
)
|
Patay Z....Ellison D.W.
|
2014 |
| 26 |
Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds. ( 24894778
)
|
Faiyaz-Ul-Haque M....ZAIDI S.H.
|
2014 |
| 27 |
A case of L-2 hydroxyglutaric aciduria presenting as febrile seizure. ( 25804013
)
|
|
2014 |
| 28 |
L-2 hydroxyglutaric aciduria in a South African Staffordshire Bull Terrier. ( 24830757
)
|
|
2014 |
| 29 |
Writer's cramp as a presentation of L-2-hydroxyglutaric aciduria. ( 26788335
)
|
|
2014 |
| 30 |
Cerebral multicystic lesions in a child with L-2 hydroxyglutaric aciduria: a rare disease and a rare association. ( 24314673
)
|
|
2014 |
| 31 |
Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria. ( 24573090
)
|
|
2014 |
| 32 |
L-2 hydroxyglutaric aciduria presenting with status epilepticus. ( 23749865
)
|
IA9ikay S.
|
2013 |
| 33 |
L-2-Hydroxyglutaric Aciduria: Report of Two Indian Families. ( 24037495
)
|
Kamate M....Hattiholi V.
|
2013 |
| 34 |
A child with L-2 hydroxyglutaric aciduria presenting with dilated cardiomyopathy: Coincidence or a new syndrome? ( 24382499
)
|
IA9A+kay S....Karacan M.
|
2013 |
| 35 |
Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. ( 23561848
)
|
Nota B....Salomons G.S.
|
2013 |
| 36 |
Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing. ( 24049096
)
|
Nota B....Salomons G.S.
|
2013 |
| 37 |
Contribution of brain MRI in a patient diagnosed with 2-hydroxyglutaric aciduria. ( 23784758
)
|
|
2013 |
| 38 |
L-2 hydroxyglutaric aciduria presenting with anxiety symptoms. ( 23749824
)
|
|
2013 |
| 39 |
L-2 hydroxyglutaric aciduria as a rare cause of leukencephalopathy in adults. ( 22840416
)
|
|
2013 |
| 40 |
A L2HGDH initiator methionine codon mutation in a Yorkshire terrier with L-2-hydroxyglutaric aciduria. ( 22834903
)
|
Farias F.H....O'Brien D.P.
|
2012 |
| 41 |
Eyelid myoclonia with absence seizures in a child with l-2 hydroxyglutaric aciduria: findings of magnetic resonance imaging. ( 22353300
)
|
|
2012 |
| 42 |
Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients. ( 22639207
)
|
|
2012 |
| 43 |
L-2-hydroxyglutaric aciduria in two female Yorkshire terriers. ( 22843824
)
|
|
2012 |
| 44 |
Cerebral neoplasms in L-2 hydroxyglutaric aciduria: 3 new cases and meta-analysis of literature data. ( 22241392
)
|
|
2012 |
| 45 |
L-2-hydroxyglutaric aciduria diagnosed in a young adult with progressive cerebellar ataxia and facial dyskinesia. ( 22030381
)
|
|
2012 |
| 46 |
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). ( 22025298
)
|
Vissers L.E....Superti-Furga A.
|
2011 |
| 47 |
Co-morbidity of Sanfilippo syndrome type C and D-2-hydroxyglutaric aciduria. ( 21384162
)
|
Ali Pervaiz M....Kirmani S.
|
2011 |
| 48 |
A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: novel avenues for biochemical and therapeutic studies. ( 21889589
)
|
|
2011 |
| 49 |
Clinical, genetic and magnetic resonance findings in an Italian patient affected by L-2-hydroxyglutaric aciduria. ( 20859647
)
|
|
2011 |
| 50 |
L-2-hydroxyglutaric aciduria and brain tumors. ( 20421813
)
|
CoA9kun T.
|
2010 |
