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C Jakobs Selected Research

succinic semialdehyde dehydrogenase deficiency

1/2012Efficacy of vigabatrin intervention in a mild phenotypic expression of succinic semialdehyde dehydrogenase deficiency.
2/20114-Hydroxybutyric aciduria associated with catheter usage: a diagnostic pitfall in the identification of SSADH deficiency.
2/2010[Succinic semialdehyde dehydrogenase deficiency: decrease in 4-OH-butyric acid levels with low doses of vigabatrin].
8/2009Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency.
6/2009Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men.
6/2007Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacology.
3/2007Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1-/- mice).
5/2006D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon?
2/2006Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency.
9/2005Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype.
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C Jakobs Research Topics

Disease

17succinic semialdehyde dehydrogenase deficiency
01/2012 - 03/2001
10Intellectual Disability (Idiocy)
07/2013 - 04/2000
102-Hydroxyglutaricaciduria
11/2011 - 06/2000
7Guanidinoacetate methyltransferase deficiency
11/2012 - 12/2000
7Seizures (Absence Seizure)
12/2010 - 10/2001
6Epilepsy (Aura)
06/2009 - 04/2000
4Pyridoxine-dependent epilepsy
08/2007 - 07/2000
4Cardiovascular Diseases (Cardiovascular Disease)
05/2005 - 01/2003
3Transaldolase Deficiency
12/2008 - 01/2005
3Inborn Errors Metabolism (Inborn Errors of Metabolism)
05/2006 - 10/2002
3Refsum Disease (Refsum's Disease)
07/2000 - 01/2000
2Vascular Diseases (Vascular Disease)
05/2012 - 02/2006
2Language Development Disorders (Semantic-Pragmatic Disorder)
01/2012 - 02/2006
2Nervous System Diseases (Neurological Disorders)
02/2011 - 01/2004
2Cardiomyopathies (Cardiomyopathy)
12/2010 - 02/2002
2Inborn Genetic Diseases (Disease, Hereditary)
12/2010 - 10/2002
2Acidosis
12/2010 - 09/2008
2X-Linked Mental Retardation (Mental Retardation, X Linked)
12/2010 - 01/2005
2Muscle Hypotonia (Hypotonia)
06/2009 - 02/2007
2Disease Progression
04/2009 - 02/2001
2Homocystinuria
07/2008 - 08/2001
2Status Epilepticus (Complex Partial Status Epilepticus)
02/2006 - 08/2004
2Smith-Lemli-Opitz Syndrome
07/2005 - 10/2001
2Zellweger Syndrome (Zellweger's Syndrome)
07/2005 - 06/2000
2Liver Failure
01/2005 - 06/2004
2Type 2 Diabetes Mellitus (MODY)
08/2003 - 04/2000
2Hypertension (High Blood Pressure)
10/2000 - 04/2000
2Hyperhomocysteinemia
10/2000 - 04/2000
1Aneurysm (Aneurysms)
03/2015
1Wounds and Injuries (Trauma)
01/2014
1Constipation
03/2011
1Cystinosis
03/2011
1Birth Weight (Birth Weights)
12/2010
1Neoplasms (Cancer)
09/2010
1Ataxia (Dyssynergia)
06/2009
1Sleep Wake Disorders
06/2009
1Multiple Sclerosis
04/2009
1Mitochondrial Diseases (Mitochondrial Disease)
03/2007

Drug/Important Bio-Agent (IBA)

13CreatineIBA
11/2012 - 04/2000
10Succinate-Semialdehyde Dehydrogenase (Succinic Semialdehyde Dehydrogenase)IBA
08/2009 - 10/2001
9AcidsIBA
02/2010 - 01/2001
9gamma-Aminobutyric Acid (GABA)IBA
08/2009 - 10/2001
9HomocysteineIBA
02/2006 - 03/2000
7EnzymesIBA
11/2011 - 03/2000
6X-linked Creatine deficiencyIBA
07/2013 - 10/2002
64-hydroxybutyric acidIBA
01/2012 - 01/2004
4Oxidoreductases (Dehydrogenase)IBA
12/2009 - 01/2000
4DNA (Deoxyribonucleic Acid)IBA
04/2008 - 03/2001
4Guanidinoacetate N-Methyltransferase (Guanidinoacetate Methyltransferase)IBA
05/2007 - 12/2000
3Ketoglutaric Acids (Ketoglutaric Acid)IBA
11/2011 - 05/2006
3Biomarkers (Surrogate Marker)IBA
04/2009 - 08/2007
3glycocyamineIBA
12/2006 - 08/2006
3pipecolic acidIBA
06/2005 - 07/2000
3Pyridoxine (Pyridoxin)FDA LinkGeneric
06/2005 - 07/2000
3CholesterolIBA
10/2001 - 04/2000
3Phytanic AcidIBA
07/2000 - 05/2000
2Biological ProductsIBA
01/2012 - 02/2010
2VigabatrinFDA Link
01/2012 - 02/2010
2alpha-hydroxyglutarateIBA
11/2011 - 06/2000
2CreatinineIBA
12/2010 - 12/2000
2Coenzyme A (CoA)IBA
12/2010 - 01/2000
2Arginine (L-Arginine)FDA Link
11/2006 - 08/2004
2Folic Acid (Vitamin M)FDA LinkGeneric
03/2006 - 04/2000
2Bile Acids and Salts (Bile Acids)IBA
07/2005 - 01/2001
2Vitamin B Complex (B Vitamins)IBA
05/2005 - 01/2003
2polyolIBA
01/2005 - 06/2004
2Methionine (L-Methionine)FDA Link
08/2004 - 04/2000
2phytanoyl-coenzyme A (phytanoyl CoA)IBA
07/2000 - 05/2000
2Mixed Function Oxygenases (Monooxygenases)IBA
07/2000 - 05/2000
2VitaminsIBA
04/2000 - 03/2000
1Nitric Oxide (Nitrogen Monoxide)FDA Link
05/2012
1IsotopesIBA
11/2011
1isocitric acid (isocitrate)IBA
11/2011
1Isocitrate Dehydrogenase (Isocitrate Dehydrogenase (NAD+))IBA
11/2011
1GlutaratesIBA
11/2011
1sedoheptuloseIBA
03/2011
1Triglycerides (Triacylglycerol)IBA
12/2010
1Carboxy-LyasesIBA
12/2010
1Malonic aciduriaIBA
12/2010
1Malonyl Coenzyme A (Malonyl CoA)IBA
12/2010
1Thymidine PhosphorylaseIBA
09/2010
1GABA-A Receptors (GABA(A) Receptor)IBA
08/2009
1Flumazenil (Romazicon)FDA LinkGeneric
08/2009
1N-acetylaspartate (N-acetyl aspartate)IBA
04/2009
1tau Proteins (tau Protein)IBA
04/2009
1IsomerasesIBA
12/2008
1Phosphates (Orthophosphate)IBA
12/2008
1Ribose (D-Ribose)IBA
12/2008
1Pyrrolidonecarboxylic Acid (Pyroglutamic Acid)IBA
09/2008
1Choline (Choline Chloride)IBA
07/2008
1CarbonIBA
10/2007
1CarbohydratesIBA
10/2007
1allysineIBA
08/2007
1Glutathione (Reduced Glutathione)IBA
03/2007
1Dihydrotachysterol (AT 10)IBA
02/2007
1Argininosuccinate LyaseIBA
11/2006

Therapy/Procedure

1Stents
03/2015
1Endovascular Aneurysm Repair
03/2015
1Limb Salvage
01/2014
1Catheters
02/2011