|1.||Jakobs, C: 6 articles (04/2008 - 01/2003)|
|2.||Jakobs, Cornelis: 5 articles (11/2013 - 06/2006)|
|3.||Salomons, Gajja S: 4 articles (11/2013 - 06/2006)|
|4.||Superti-Furga, Andrea: 3 articles (11/2012 - 08/2009)|
|5.||Rakheja, Dinesh: 3 articles (03/2011 - 03/2010)|
|6.||Fischer, J: 3 articles (12/2009 - 04/2008)|
|7.||Sass, J O: 3 articles (12/2009 - 04/2008)|
|8.||Wajner, Moacir: 3 articles (02/2009 - 05/2003)|
|9.||Salomons, G S: 3 articles (04/2008 - 10/2005)|
|10.||Verhoeven, N M: 3 articles (05/2006 - 01/2005)|
03/01/2006 - "Biochemical investigations established the diagnosis of L-2-hydroxyglutaric aciduria which has to be kept in mind as a rare cause of macrocephaly."
01/01/1996 - "Macrocephaly as the presenting feature of L-2-hydroxyglutaric aciduria in a 5-month-old boy."
01/01/2013 - "In conclusion, in patients with progressive mental retardation, macrocephaly and cerebral findings, L-2-hydroxyglutaric aciduria should be considered in case of deep white matter and dentate nuclei involvement in MRI."
01/01/2013 - "In this report, we present an rare 8-year-old patient with a rare mental retardation, cerebellar findings, macrocephaly and typical brain MRI findings, who was subsequently diagnosed with L-2-hydroxyglutaric aciduria. "
04/01/2008 - "L-2-Hydroxyglutaric aciduria (L-2-HGA) is an autosomal recessive neurometabolic disorder characterized by psychomotor delay, ataxia, macrocephaly and typical neuroradiological findings of subcortical leucoencephalopathy. "
11/01/1996 - "We report on an infant with D-2-hydroxyglutaric aciduria, who presented with severe seizures and developmental delay. "
02/01/1994 - "D-2-hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction."
05/01/2007 - "l-2-hydroxyglutaric aciduria (l-2-HGA) is a neurometabolic disorder that produces a variety of clinical neurological deficits, including psychomotor retardation, seizures and ataxia. "
10/01/2005 - "We studied 21 patients, from 18 families, with L-2-hydroxyglutaric aciduria (L-2-HGA), a rare neurometabolic disorder with a homogeneous presentation: progressive neurodegeneration with extrapyramidal and cerebellar signs, seizures, and subcortical leukoencephalopathy. "
01/01/1996 - "We report a more severe form of L-2-hydroxyglutaric aciduria in which an infant presented shortly after birth with hypotonia, apnoea, and seizures, leading to death in the perinatal period. "
01/01/2008 - "L-2-hydroxyglutaric aciduria should be considered as one of the differential diagnoses of epilepsy."
01/01/2008 - "To report the importance of a rare organic acid metabolic disorder, L-2-hydroxyglutaric aciduria, and its characteristic neuroimaging cerebral white matter abnormalities in a case of epilepsy. "
01/01/2008 - "Epilepsy in a young adult caused by L-2-hydroxyglutaric aciduria: a case report."
06/01/2006 - "Acute hemiconvulsion-hemiplegia-epilepsy syndrome has not been reported as a presenting feature in L-2-hydroxyglutaric aciduria. "
06/01/2006 - "Hemiconvulsion-hemiplegia-epilepsy syndrome as a presenting feature of L-2-hydroxyglutaric aciduria."
|4.||Neurodegenerative Diseases (Neurodegenerative Disease)
07/01/2002 - "L-2-Hydroxyglutaric aciduria (LHGA) is a rare autosomal recessively inherited neurodegenerative disorder. "
01/01/1996 - "L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death."
04/01/2008 - "L-2-Hydroxyglutaric aciduria (L-2-HGA, MIM 236792) is a rare autosomal recessive neurodegenerative disorder characterized by psychomotor delay, cerebellar and extrapyramidal signs and subcortical leukoencephalopathy with basal ganglia and dentate nuclei involvement. "
01/01/2005 - "L-2-hydroxyglutaric aciduria (L2HGA) is a chronic slowly progressive neurodegenerative disease characterized mainly by psychomotor developmental delay and cerebellar dysfunction. "
02/01/2001 - "Leukodystrophy with macrocephaly as the main features of infantile neurodegenerative disease are characteristics of Canavan's disease, L-2-hydroxyglutaric aciduria, type I glutaric aciduria, and Alexander's disease. "
09/01/2010 - "To our knowledge, the present case is the 1st example of an extracranial tumor associated with L-2-hydroxyglutaric aciduria. "
05/25/2004 - "L-2-hydroxyglutaric aciduria and brain malignant tumors: a predisposing condition?"
03/01/2015 - "To illustrate the concept of sustained oncogenic potential in permanent exposure to L-2-hydroxyglutarate in brain tissue, we present the medical history of a patient with L-2-hydroxyglutaric aciduria who underwent surgery to remove a right temporal anaplastic astrocytoma and developed an anatomically distinct, but histopathologically similar, tumor in the left frontal region 40 months later. "
06/01/1997 - "We report the second case in the literature of a cerebral thalamic tumor in L-2-hydroxyglutaric aciduria; neuropathological examination of the surgical biopsy demonstrated a diffuse fibrillary astrocytoma."
03/01/2015 - "Patients with L-2-hydroxyglutaric aciduria are at risk for developing cerebral neoplasms, particularly gliomas, as one of the optical isomers of the known oncometabolite, 2-hydroxyglutarate is produced in L-2-hydroxyglutaric aciduria. "
|3.||Succinate-Semialdehyde Dehydrogenase (Succinic Semialdehyde Dehydrogenase)
|5.||Valproic Acid (Valproate, Semisodium)
|10.||HMG CoA lyase deficiency