Gajja S Salomons Selected Research

X-linked Creatine deficiency

1/2016	Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case.
9/2014	X-linked creatine transporter deficiency: clinical aspects and pathophysiology.
12/2012	Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms.
1/2012	Phenotypic variability in a portuguese family with x-linked creatine transport deficiency.
12/2010	Treatment of intractable epilepsy in a female with SLC6A8 deficiency.
8/2010	X-linked creatine transporter deficiency presenting as a mitochondrial disorder.
9/2009	Epilepsy spectrum in cerebral creatine transporter deficiency.
7/2008	Identification, characterization and cloning of SLC6A8C, a novel splice variant of the creatine transporter gene.
7/2008	Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.
11/2007	Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening.

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Gajja S Salomons Research Topics

Disease

17	Intellectual Disability (Idiocy) 01/2017 - 05/2002
16	Seizures (Absence Seizure) 11/2021 - 05/2002
13	Guanidinoacetate methyltransferase deficiency 05/2018 - 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	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	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	Movement Disorders (Movement Disorder) 05/2018 - 01/2017
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	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 10/2022
1	Acidosis 11/2021
1	Hypoglycemia (Reactive Hypoglycemia) 11/2021
1	Failure to Thrive 11/2021
1	Fetal Death 11/2021
1	type 1 Pena Shokeir syndrome 11/2021
1	Dihydropyrimidine Dehydrogenase Deficiency 01/2021
1	Trichothiodystrophy Syndromes 01/2021
1	Metachromatic Leukodystrophy (Sulfatide Lipidosis) 10/2020
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 01/2019
1	Lactic Acidosis 01/2019
1	Toxic Optic Neuropathy 01/2019
1	Hypersensitivity (Allergy) 01/2019
1	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 01/2019
1	Mitochondrial Myopathies (Mitochondrial Myopathy) 01/2019
1	Muscular Diseases (Myopathy) 01/2019
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2018

Drug/Important Bio-Agent (IBA)

20	CreatineIBA 05/2020 - 05/2002
15	X-linked Creatine deficiencyIBA 01/2016 - 05/2002
12	EnzymesIBA 01/2021 - 02/2004
9	creatine transporterIBA 01/2012 - 05/2002
8	alpha-hydroxyglutarateIBA 01/2019 - 02/2005
8	Oxidoreductases (Dehydrogenase)IBA 01/2019 - 02/2005
7	gamma-Aminobutyric Acid (GABA)IBA 01/2020 - 07/2006
7	Pyridoxine (Pyridoxin)FDA LinkGeneric 01/2019 - 10/2007
7	glycocyamineIBA 05/2018 - 02/2003
6	Proteins (Proteins, Gene)FDA Link 01/2021 - 02/2005
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	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
4	Protons (Proton)IBA 02/2010 - 02/2003
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	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
2	Biomarkers (Surrogate Marker)IBA 04/2012 - 04/2009
1	Ligases (Synthetase)IBA 10/2022
1	Transfer RNA (tRNA)IBA 10/2022
1	Tryptophan-tRNA LigaseIBA 10/2022
1	FibrinIBA 11/2021
1	Capecitabine (Xeloda)FDA Link 01/2021
1	UracilIBA 01/2021
1	SulfurIBA 01/2021
1	Pharmaceutical PreparationsIBA 01/2021
1	Dihydrouracil Dehydrogenase (NADP) (Dihydropyrimidine Dehydrogenase)IBA 01/2021
1	Fluorouracil (Carac)FDA LinkGeneric 01/2021
1	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 11/2020
1	Methionine-tRNA LigaseIBA 11/2020
1	Transaminases (Aminotransferases)IBA 11/2020
1	Cerebroside-Sulfatase (Arylsulfatase A)IBA 10/2020
1	Aldehyde DehydrogenaseIBA 01/2020
1	asparaginyl-tRNA synthetaseIBA 01/2020
1	Valine-tRNA LigaseIBA 12/2019
1	Aminobutyrates (Aminobutyric Acid)IBA 01/2019
1	ATP Translocases Mitochondrial ADPIBA 01/2019
1	AcidsIBA 01/2019
1	Vigabatrin FDA Link 01/2019
1	Transcription Factor TFIIHIBA 01/2019
1	Proline (L-Proline)FDA Link 01/2019
1	cysteinyl-tRNA synthetaseIBA 01/2019
1	4-Aminobutyrate Transaminase (4 Aminobutyrate Transaminase)IBA 01/2019
1	Histidine (L-Histidine)FDA Link 01/2018
1	Mitochondrial DNA (mtDNA)IBA 01/2018

Therapy/Procedure

3	Therapeutics 01/2018 - 04/2009