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G S Salomons Selected Research

2-Hydroxyglutaricaciduria

11/2011A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: novel avenues for biochemical and therapeutic studies.
12/2009Development and implementation of a novel assay for L-2-hydroxyglutarate dehydrogenase (L-2-HGDH) in cell lysates: L-2-HGDH deficiency in 15 patients with L-2-hydroxyglutaric aciduria.
4/2008L-2-Hydroxyglutaric aciduria presenting with severe autistic features.
8/2007Mutation analysis a prerequisite for prenatal diagnosis of L-2-hydroxyglutaric aciduria?
5/2006D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon?
10/2005Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.
6/2004D-2-hydroxyglutaric aciduria and glutaric aciduria type 1 in siblings: coincidence, or linked disorders?

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G S Salomons Research Topics

Disease

10succinic semialdehyde dehydrogenase deficiency
06/2017 - 03/2001
8Guanidinoacetate methyltransferase deficiency
01/2016 - 03/2005
7Intellectual Disability (Idiocy)
01/2016 - 08/2006
72-Hydroxyglutaricaciduria
11/2011 - 06/2004
5Epilepsy (Aura)
11/2016 - 08/2006
5Seizures (Absence Seizure)
03/2016 - 06/2004
2Inborn Genetic Diseases (Disease, Hereditary)
12/2010 - 10/2002
2X-Linked Mental Retardation (Mental Retardation, X Linked)
12/2010 - 01/2005
2Inborn Errors Metabolism (Inborn Errors of Metabolism)
05/2006 - 10/2002
1Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
03/2016
1Acute Myeloid Leukemia (Acute Myelogenous Leukemia)
01/2016
1Neoplasms (Cancer)
12/2015
1Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked)
02/2015
1Muscular Diseases (Myopathy)
08/2013
1Cognitive Dysfunction
08/2013
1Language Development Disorders (Semantic-Pragmatic Disorder)
01/2012
1Constipation
03/2011
1Acidosis
12/2010
1Cardiomyopathies (Cardiomyopathy)
12/2010
1Birth Weight (Birth Weights)
12/2010
1Muscle Hypotonia (Hypotonia)
02/2007
1Movement Disorders (Movement Disorder)
08/2006
1Alexander Disease (Alexander's Disease)
02/2006
1Atrophy
02/2006
1Canavan Disease (Leukodystrophy, Spongiform)
10/2005
1Liver Failure
01/2005
1Absence Epilepsy (Childhood Absence Epilepsy)
06/2004
1Nervous System Diseases (Neurological Disorders)
01/2004
1Neurologic Manifestations (Neurological Manifestations)
03/2001
1Inflammation (Inflammations)
10/2000
1Pouchitis
10/2000

Drug/Important Bio-Agent (IBA)

11CreatineIBA
01/2016 - 03/2001
7AcidsIBA
06/2017 - 06/2004
6X-linked Creatine deficiencyIBA
02/2015 - 10/2002
4EnzymesIBA
01/2016 - 03/2001
3gamma-Aminobutyric Acid (GABA)IBA
01/2017 - 06/2004
34-hydroxybutyric acidIBA
01/2012 - 01/2004
3DNA (Deoxyribonucleic Acid)IBA
04/2008 - 03/2001
3Guanidinoacetate N-Methyltransferase (Guanidinoacetate Methyltransferase)IBA
05/2007 - 03/2005
3glycocyamineIBA
12/2006 - 08/2006
3Succinate-Semialdehyde Dehydrogenase (Succinic Semialdehyde Dehydrogenase)IBA
05/2006 - 04/2004
2alpha-hydroxyglutarateIBA
12/2015 - 11/2011
2VigabatrinFDA Link
01/2012 - 02/2010
2Ketoglutaric Acids (Ketoglutaric Acid)IBA
11/2011 - 05/2006
2Oxidoreductases (Dehydrogenase)IBA
12/2009 - 05/2006
1Aldehyde DehydrogenaseIBA
01/2017
1Sirolimus (Rapamycin)FDA Link
01/2017
1Aminobutyrates (Aminobutyric Acid)IBA
11/2016
1Biomarkers (Surrogate Marker)IBA
11/2016
1PyridoxamineIBA
03/2016
1Pyridoxine (Pyridoxin)FDA LinkGeneric
03/2016
1Arginine-Glycine Amidinotransferase DeficiencyIBA
08/2013
1glycine amidinotransferase (arginine-glycine amidinotransferase)IBA
08/2013
1Isocitrate Dehydrogenase (Isocitrate Dehydrogenase (NAD+))IBA
11/2011
1isocitric acid (isocitrate)IBA
11/2011
1GlutaratesIBA
11/2011
1IsotopesIBA
11/2011
1Malonyl Coenzyme A (Malonyl CoA)IBA
12/2010
1CreatinineIBA
12/2010
1Malonic aciduriaIBA
12/2010
1Triglycerides (Triacylglycerol)IBA
12/2010
1Coenzyme A (CoA)IBA
12/2010
1Carboxy-LyasesIBA
12/2010
1Arginine (L-Arginine)FDA Link
12/2008
1Anticonvulsants (Antiepileptic Drugs)IBA
12/2008
1Dihydrotachysterol (AT 10)IBA
02/2007
1MethyltransferasesIBA
08/2006
1hydroxyacid-oxoacid transhydrogenaseIBA
05/2006
1aspartoacylaseIBA
10/2005
1AmmoniaIBA
01/2005
1Blood Proteins (Serum Proteins)IBA
01/2005
1Glutaryl-CoA DehydrogenaseIBA
06/2004
14- (1- (4- hydroxyphenyl)- 2- phenylbuten- 1- yl)phenoxy- n- butyric acidIBA
01/2004
1creatine transporterIBA
10/2002
1Proteins (Proteins, Gene)FDA Link
10/2000
1InulinFDA Link
10/2000

Therapy/Procedure

1Drug Therapy (Chemotherapy)
01/2016