Cornelis Jakobs Selected Research

Succinate-Semialdehyde Dehydrogenase (Succinic Semialdehyde Dehydrogenase)

9/2015	Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood.
5/2013	Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.
1/2013	Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD).
10/2011	Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.
12/2009	Polysomnographic abnormalities in succinic semialdehyde dehydrogenase (SSADH) deficiency.
11/2008	Neurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during development.
7/2008	Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients.
4/2006	Increased guanidino species in murine and human succinate semialdehyde dehydrogenase (SSADH) deficiency.
4/2004	Liver-directed adenoviral gene transfer in murine succinate semialdehyde dehydrogenase deficiency.
12/2003	Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.

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Cornelis Jakobs Research Topics

Disease

25	Seizures (Absence Seizure) 01/2014 - 05/2002
18	succinic semialdehyde dehydrogenase deficiency 09/2015 - 07/2002
15	Pyridoxine-dependent epilepsy 12/2013 - 10/2005
13	2-Hydroxyglutaricaciduria 08/2017 - 01/2002
11	Epilepsy (Aura) 06/2014 - 02/2003
10	Intellectual Disability (Idiocy) 01/2014 - 05/2002
7	Brain Diseases (Brain Disorder) 12/2011 - 09/2005
5	Guanidinoacetate methyltransferase deficiency 01/2012 - 02/2003
5	X-Linked Mental Retardation (Mental Retardation, X Linked) 07/2008 - 05/2002
3	Language Development Disorders (Semantic-Pragmatic Disorder) 06/2014 - 09/2005
3	Liver Cirrhosis (Hepatic Cirrhosis) 01/2011 - 04/2004
2	Autistic Disorder (Autism) 06/2014 - 01/2014
2	Infections 06/2014 - 08/2011
2	Fibrosis (Cirrhosis) 01/2014 - 11/2006
2	Infantile Hypophosphatasia 01/2014 - 09/2011
2	Drug Resistant Epilepsy 12/2013 - 12/2010
2	Hyperhomocysteinemia 06/2012 - 10/2005
2	Status Epilepticus (Complex Partial Status Epilepticus) 12/2011 - 12/2008
2	Vitamin B 6 Deficiency (Pyridoxine Deficiency) 12/2011 - 09/2011
2	Transaldolase Deficiency 11/2010 - 09/2004
2	Metabolic Diseases (Metabolic Disease) 11/2006 - 02/2006
2	Chronic Kidney Failure (Chronic Renal Failure) 01/2005 - 08/2004
1	Congenital Abnormalities (Deformity) 01/2014
1	Chondromatosis 11/2013
1	Neoplasms (Cancer) 04/2013
1	Hemolysis 03/2013
1	Hemolytic Anemia 03/2013
1	Phenylketonurias (Phenylketonuria) 01/2013
1	Lesch-Nyhan Syndrome (Choreoathetosis Self Mutilation Hyperuricemia Syndrome) 01/2013
1	Molybdenum cofactor deficiency 11/2012
1	Clinical Deterioration 11/2012
1	Acidosis 08/2012
1	Cardiovascular Diseases (Cardiovascular Disease) 06/2012
1	Homocystinuria 06/2012
1	Liver Diseases (Liver Disease) 05/2012
1	Deafness (Deaf Mutism) 05/2012
1	Psychotic Disorders (Schizoaffective Disorder) 01/2012
1	Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 11/2011
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 10/2011
1	Hypermethioninemia 10/2011
1	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 09/2011

Drug/Important Bio-Agent (IBA)

17	Pyridoxine (Pyridoxin)FDA LinkGeneric 01/2014 - 01/2007
13	Succinate-Semialdehyde Dehydrogenase (Succinic Semialdehyde Dehydrogenase)IBA 09/2015 - 07/2002
13	gamma-Aminobutyric Acid (GABA)IBA 05/2013 - 08/2002
11	Oxidoreductases (Dehydrogenase)IBA 09/2011 - 02/2005
10	CreatineIBA 06/2014 - 05/2002
9	HomocysteineIBA 06/2012 - 08/2003
9	EnzymesIBA 10/2010 - 01/2003
8	alpha-hydroxyglutarateIBA 11/2013 - 01/2004
8	creatine transporterIBA 01/2012 - 05/2002
8	X-linked Creatine deficiencyIBA 12/2010 - 05/2002
7	allysineIBA 12/2013 - 03/2006
7	Anticonvulsants (Antiepileptic Drugs)IBA 09/2012 - 01/2007
6	Biomarkers (Surrogate Marker)IBA 08/2017 - 04/2009
5	DNA (Deoxyribonucleic Acid)IBA 08/2017 - 08/2003
4	AcidsIBA 08/2017 - 01/2002
4	TransaldolaseIBA 01/2014 - 04/2004
4	Arginine (L-Arginine)FDA Link 01/2012 - 05/2002
4	Leucovorin (Folinic Acid)FDA Link 12/2011 - 05/2009
4	Neurotransmitter Agents (Neurotransmitter)IBA 06/2011 - 01/2003
3	Proteins (Proteins, Gene)FDA Link 08/2017 - 10/2003
3	pipecolic acidIBA 11/2012 - 07/2004
3	Methionine (L-Methionine)FDA Link 10/2011 - 08/2004
3	glycocyamineIBA 05/2009 - 02/2003
3	S-AdenosylhomocysteineIBA 10/2005 - 08/2003
2	RNA (Ribonucleic Acid)IBA 01/2014 - 10/2003
2	Lysine (L-Lysine)FDA Link 11/2012 - 08/2011
2	Phosphates (Orthophosphate)IBA 08/2012 - 09/2011
2	Nitric Oxide (Nitrogen Monoxide)FDA Link 06/2012 - 12/2010
2	Folic Acid (Vitamin M)FDA LinkGeneric 11/2011 - 01/2005
2	PyridoxalIBA 11/2011 - 07/2010
2	GABA-B ReceptorsIBA 10/2011 - 07/2002
2	Retinaldehyde (Retinal)IBA 08/2011 - 04/2008
2	Glycine (Aminoacetic Acid)FDA LinkGeneric 12/2010 - 05/2002
2	CreatinineIBA 07/2010 - 04/2008
2	Protons (Proton)IBA 02/2010 - 02/2003
2	Phenobarbital (Luminal)FDA Link 12/2008 - 05/2007
2	Vitamin B 6IBA 06/2007 - 01/2007
2	Amino Acids FDA Link 07/2004 - 10/2003
2	Sodium Oxybate (gamma Hydroxybutyrate)FDA Link 10/2003 - 01/2003
1	GuanineIBA 08/2017
1	Tyrosine (L-Tyrosine)FDA Link 08/2017
1	Carnitine (L-Carnitine)FDA LinkGeneric 08/2017
1	Protein Isoforms (Isoforms)IBA 06/2014
1	Untranslated RNA (Noncoding RNA)IBA 01/2014
1	citrate-binding transport proteinIBA 04/2013
1	Triose-Phosphate Isomerase (Triosephosphate Isomerase)IBA 03/2013
1	Sulfite OxidaseIBA 11/2012
1	CystathionineIBA 06/2012
1	Nitric Oxide Synthase (NO Synthase)IBA 06/2012
1	N,N-dimethylarginine (asymmetric dimethylarginine)IBA 06/2012
1	Adenosine Triphosphate (ATP)IBA 05/2012
1	Cytidine Triphosphate (CTP)IBA 01/2012
1	Pyridoxal Phosphate (Pyridoxal 5 Phosphate)IBA 11/2011
1	Folate Receptor 1IBA 11/2011
1	Adenosine KinaseIBA 10/2011
1	GABA-B Receptor AntagonistsIBA 10/2011

Therapy/Procedure

4	Therapeutics 11/2012 - 04/2009
1	Phototherapy (Light Therapy) 03/2013
1	Treatment Delay 09/2011