Gajja S Salomons Selected Research

Neoplasms (Cancer)

1/2021	Preemptive screening of DPYD as part of clinical practice: high prevalence of a novel exon 4 deletion in the Finnish population.
1/2018	IDH1-mutated transgenic zebrafish lines: An in-vivo model for drug screening and functional analysis.
5/2015	Inhibition of mutant IDH1 decreases D-2-HG levels without affecting tumorigenic properties of chondrosarcoma cell lines.
4/2013	Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.
4/2002	Tumor-specific down-regulation of the tumor necrosis factor-related apoptosis-inducing ligand decoy receptors DcR1 and DcR2 is associated with dense promoter hypermethylation.

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Gajja S Salomons Research Topics

Disease

18	Intellectual Disability (Idiocy) 03/2024 - 05/2002
17	Seizures (Absence Seizure) 03/2024 - 05/2002
14	Guanidinoacetate methyltransferase deficiency 03/2024 - 02/2003
11	Epilepsy (Aura) 01/2017 - 02/2003
10	succinic semialdehyde dehydrogenase deficiency 11/2020 - 12/2003
10	2-Hydroxyglutaricaciduria 01/2019 - 02/2005
7	Brain Diseases (Brain Disorder) 12/2019 - 09/2005
6	X-Linked Mental Retardation (Mental Retardation, X Linked) 01/2012 - 05/2002
5	Cardiomyopathies (Cardiomyopathy) 11/2021 - 12/2014
5	Neoplasms (Cancer) 01/2021 - 04/2002
5	Disease Progression 11/2020 - 07/2006
4	Pyridoxine-dependent epilepsy 01/2019 - 10/2007
4	Alexander Disease (Alexander's Disease) 04/2016 - 03/2005
4	Language Development Disorders (Semantic-Pragmatic Disorder) 06/2014 - 09/2005
3	Inborn Genetic Diseases (Disease, Hereditary) 05/2024 - 01/2018
3	Movement Disorders (Movement Disorder) 03/2024 - 01/2017
3	Microcephaly 10/2022 - 01/2019
3	Ataxia (Dyssynergia) 01/2020 - 11/2013
3	Glioma (Gliomas) 01/2018 - 03/2011
3	Autistic Disorder (Autism) 06/2014 - 11/2007
2	Dihydropyrimidine Dehydrogenase Deficiency 05/2024 - 01/2021
2	Neurodevelopmental Disorders 01/2021 - 01/2016
2	Liver Failure 11/2020 - 11/2006
2	Peripheral Nervous System Diseases (PNS Diseases) 01/2020 - 04/2004
2	Mitochondrial Diseases (Mitochondrial Disease) 12/2019 - 08/2010
2	Leukoencephalopathies 01/2016 - 04/2004
2	Homocystinuria 12/2015 - 03/2014
2	Metabolic Diseases (Metabolic Disease) 12/2014 - 11/2006
2	Fibrosis (Cirrhosis) 01/2014 - 11/2006
1	Sjogren-Larsson Syndrome 01/2024
1	Cerebrotendinous Xanthomatosis 01/2023
1	Zellweger Syndrome (Zellweger's Syndrome) 01/2023
1	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 10/2022
1	COVID-19 08/2022
1	Failure to Thrive 11/2021
1	Hypoglycemia (Reactive Hypoglycemia) 11/2021
1	Acidosis 11/2021
1	Fetal Death 11/2021
1	type 1 Pena Shokeir syndrome 11/2021
1	Trichothiodystrophy Syndromes 01/2021
1	Metachromatic Leukodystrophy (Sulfatide Lipidosis) 10/2020
1	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 01/2019
1	Mitochondrial Myopathies (Mitochondrial Myopathy) 01/2019
1	Toxic Optic Neuropathy 01/2019

Drug/Important Bio-Agent (IBA)

21	CreatineIBA 03/2024 - 05/2002
15	X-linked Creatine deficiencyIBA 01/2016 - 05/2002
14	EnzymesIBA 05/2024 - 02/2004
9	creatine transporterIBA 01/2012 - 05/2002
8	glycocyamineIBA 03/2024 - 02/2003
8	Oxidoreductases (Dehydrogenase)IBA 01/2019 - 02/2005
8	alpha-hydroxyglutarateIBA 01/2019 - 02/2005
7	gamma-Aminobutyric Acid (GABA)IBA 01/2020 - 07/2006
7	Pyridoxine (Pyridoxin)FDA LinkGeneric 01/2019 - 10/2007
6	Proteins (Proteins, Gene)FDA Link 01/2021 - 02/2005
5	Protons (Proton)IBA 03/2024 - 02/2003
5	Succinate-Semialdehyde Dehydrogenase (Succinic Semialdehyde Dehydrogenase)IBA 11/2020 - 12/2003
5	Guanidinoacetate N-Methyltransferase (Guanidinoacetate Methyltransferase)IBA 05/2018 - 09/2007
5	Arginine (L-Arginine)FDA Link 01/2018 - 05/2002
4	Biomarkers (Surrogate Marker)IBA 01/2024 - 04/2009
4	Isocitrate Dehydrogenase (Isocitrate Dehydrogenase (NAD+))IBA 01/2018 - 03/2011
4	DNA (Deoxyribonucleic Acid)IBA 01/2017 - 03/2005
4	TransaldolaseIBA 12/2014 - 04/2004
3	Anticonvulsants (Antiepileptic Drugs)IBA 01/2019 - 10/2007
3	Glycine (Aminoacetic Acid)FDA LinkGeneric 01/2018 - 05/2002
3	Adenosine Triphosphate (ATP)IBA 12/2017 - 05/2012
3	allysineIBA 05/2009 - 10/2007
2	Capecitabine (Xeloda)FDA Link 05/2024 - 01/2021
2	Malonic aciduriaIBA 11/2021 - 12/2014
2	Sulfoglycosphingolipids (Sulfatides)IBA 10/2020 - 07/2016
2	Amino Acids FDA Link 05/2020 - 01/2019
2	Lactic Acid (Lactate)FDA LinkGeneric 12/2019 - 01/2016
2	Glutamine (L-Glutamine)FDA Link 01/2019 - 01/2019
2	Glial Fibrillary Acidic ProteinIBA 04/2016 - 03/2013
1	Sulfates (Sulfates, Inorganic)IBA 04/2024
1	OrnithineIBA 03/2024
1	long-chain-aldehyde dehydrogenaseIBA 01/2024
1	Mixed Function Oxygenases (Monooxygenases)IBA 01/2023
1	Bile Acids and Salts (Bile Acids)IBA 01/2023
1	Tryptophan-tRNA LigaseIBA 10/2022
1	Ligases (Synthetase)IBA 10/2022
1	Transfer RNA (tRNA)IBA 10/2022
1	SuspensionsIBA 08/2022
1	FibrinIBA 11/2021
1	Dihydrouracil Dehydrogenase (NADP) (Dihydropyrimidine Dehydrogenase)IBA 01/2021
1	Fluorouracil (Carac)FDA LinkGeneric 01/2021
1	SulfurIBA 01/2021
1	UracilIBA 01/2021
1	Methionine-tRNA LigaseIBA 11/2020
1	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 11/2020
1	Transaminases (Aminotransferases)IBA 11/2020
1	Cerebroside-Sulfatase (Arylsulfatase A)IBA 10/2020
1	asparaginyl-tRNA synthetaseIBA 01/2020
1	Aldehyde DehydrogenaseIBA 01/2020
1	Valine-tRNA LigaseIBA 12/2019
1	Aminobutyrates (Aminobutyric Acid)IBA 01/2019
1	AcidsIBA 01/2019
1	Transcription Factor TFIIHIBA 01/2019
1	cysteinyl-tRNA synthetaseIBA 01/2019
1	ATP Translocases Mitochondrial ADPIBA 01/2019

Therapy/Procedure

4	Therapeutics 03/2024 - 04/2009