Simon J Heales Selected Research

triokinase

1/2020

Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.

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Simon J Heales Research Topics

Disease

3	Mitochondrial Diseases (Mitochondrial Disease) 06/2017 - 02/2010
2	Seizures (Absence Seizure) 01/2013 - 04/2011
1	Ketosis 12/2023
1	Critical Illness (Critically Ill) 12/2023
1	Galactosemias (Galactosemia) 01/2020
1	Cataract (Cataracts) 01/2020
1	Glioblastoma (Glioblastoma Multiforme) 07/2019
1	Hereditary Folate Malabsorption 01/2018
1	Inborn Genetic Diseases (Disease, Hereditary) 11/2017
1	Cerebellar Diseases (Cerebellar Syndrome) 06/2017
1	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 06/2017
1	Neurodegenerative Diseases (Neurodegenerative Disease) 06/2017
1	Alzheimer Disease (Alzheimer's Disease) 05/2014
1	Parkinson Disease (Parkinson's Disease) 05/2014
1	Cerebellar Ataxia (Dysmetria) 01/2013
1	Epilepsy (Aura) 01/2013
1	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 01/2013
1	Coenzyme Q10 Deficiency 01/2013
1	Inflammation (Inflammations) 11/2011
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 04/2011
1	Pyridoxine-dependent epilepsy 04/2011
1	Molybdenum cofactor deficiency 04/2011
1	Necrosis 05/2009
1	Leigh Disease (Leigh's Disease) 11/2006

Drug/Important Bio-Agent (IBA)

2	Fatty Acids (Saturated Fatty Acids)IBA 12/2023 - 05/2009
2	Glucose (Dextrose)FDA LinkGeneric 12/2023 - 05/2014
2	Mitochondrial DNA (mtDNA)IBA 07/2019 - 06/2017
2	coenzyme Q10 (CoQ10)IBA 07/2019 - 01/2013
1	GalactitolIBA 01/2020
1	FMN cyclaseIBA 01/2020
1	triokinaseIBA 01/2020
1	FructoseIBA 01/2020
1	Electron Transport Complex III (Coenzyme Q-Cytochrome-c Reductase)IBA 07/2019
1	Cytochromes b (Cytochrome b)IBA 07/2019
1	Folic Acid (Vitamin M)FDA LinkGeneric 01/2018
1	Proton-Coupled Folate TransporterIBA 01/2018
1	Dopamine (Intropin)FDA LinkGeneric 11/2017
1	Serotonin (5 Hydroxytryptamine)IBA 11/2017
1	CholesterolIBA 06/2017
1	Adenosine Triphosphate (ATP)IBA 01/2013
1	Oxidoreductases (Dehydrogenase)IBA 01/2013
1	UbiquinoneIBA 01/2013
1	Vitamin B 6IBA 01/2013
1	Blood Proteins (Serum Proteins)IBA 11/2011
1	metabotropic glutamate receptor 2IBA 11/2011
1	L 30 (L-30)IBA 04/2011
1	Anticonvulsants (Antiepileptic Drugs)IBA 04/2011
1	SulfitesIBA 04/2011
1	EnzymesIBA 02/2010
1	Glutamic Acid (Glutamate)FDA Link 05/2009
1	Interleukin-1beta (Interleukin 1 beta)IBA 05/2009
1	AlbuminsIBA 05/2009
1	Serum AlbuminIBA 05/2009
1	Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA 05/2009
1	Transforming Growth Factor beta1 (TGF beta 1)IBA 05/2009
1	Nitric Oxide Synthase Type II (Inducible Nitric Oxide Synthase)IBA 05/2009
1	LipidsIBA 05/2009
1	LipopolysaccharidesIBA 05/2009
1	Cyclooxygenase 2 (Cyclooxygenase-2)IBA 05/2009
1	Succinate Dehydrogenase (Fumarate Reductase)IBA 11/2006
1	FlavoproteinsIBA 11/2006