Gregory M Enns Selected Research

Potassium Channels (Potassium Channel)

3/2021

Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy.

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Gregory M Enns Research Topics

Disease

17	Mitochondrial Diseases (Mitochondrial Disease) 01/2020 - 09/2003
8	Leigh Disease (Leigh's Disease) 03/2015 - 08/2006
7	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2022 - 02/2002
6	Methylmalonic acidemia 01/2019 - 04/2009
6	Hyperammonemia 12/2018 - 05/2007
5	Inborn Urea Cycle Disorders 09/2019 - 05/2007
3	Seizures (Absence Seizure) 01/2021 - 10/2014
3	Wolman Disease (Wolman's Disease) 09/2019 - 11/2014
3	Ornithine Carbamoyltransferase Deficiency Disease 12/2018 - 04/2011
3	Intellectual Disability (Idiocy) 11/2017 - 10/2015
3	Acidosis 11/2016 - 01/2011
3	Dyslipidemias (Dyslipidemia) 12/2015 - 09/2013
3	MELAS Syndrome (Syndrome, MELAS) 01/2014 - 01/2012
2	Liver Failure 01/2022 - 12/2015
2	Hypoglycemia (Reactive Hypoglycemia) 01/2022 - 01/2020
2	Pneumonia (Pneumonitis) 01/2022 - 01/2012
2	Cardiomyopathies (Cardiomyopathy) 01/2022 - 01/2018
2	Neurodevelopmental Disorders 01/2020 - 01/2016
2	Hypersensitivity (Allergy) 09/2019 - 11/2014
2	Phenylketonurias (Phenylketonuria) 11/2018 - 04/2015
2	Brain Diseases (Brain Disorder) 12/2017 - 01/2008
2	Neoplasms (Cancer) 10/2016 - 01/2016
2	End Stage Liver Disease 02/2016 - 09/2008
2	Liver Diseases (Liver Disease) 09/2013 - 09/2008
2	Kidney Diseases (Kidney Disease) 08/2013 - 07/2009
2	Friedreich Ataxia (Friedreich's Ataxia) 12/2012 - 01/2012
2	Acute Liver Failure (Fulminant Hepatic Failure) 07/2009 - 09/2008
1	Acute-On-Chronic Liver Failure 01/2022
1	Urinary Tract Infections (Urinary Tract Infection) 01/2022
1	Navajo neurohepatopathy 01/2022
1	Hypothyroidism 01/2022
1	Rare Diseases (Rare Disease) 01/2022
1	Critical Illness (Critically Ill) 01/2022
1	Inflammation (Inflammations) 11/2021
1	Myoclonic Epilepsies (Myoclonic Encephalopathy) 03/2021
1	Neuroblastoma 03/2021
1	Progressive Myoclonic Epilepsies (Progressive Myoclonic Epilepsy) 03/2021
1	Hyperargininemia 01/2021
1	Eye Diseases (Eye Disease) 01/2021
1	Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked) 01/2021
1	Retinal Degeneration 01/2020
1	Hyperinsulinism (Hyperinsulinemia) 01/2020
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2020
1	Metabolic Syndrome (Dysmetabolic Syndrome X) 01/2020
1	Immediate Hypersensitivity 09/2019
1	Pontocerebellar Hypoplasia Type 6 01/2019
1	Epilepsy (Aura) 01/2019
1	Metabolic Diseases (Metabolic Disease) 11/2018

Drug/Important Bio-Agent (IBA)

6	Mitochondrial DNA (mtDNA)IBA 01/2022 - 08/2006
6	Proteins (Proteins, Gene)FDA Link 03/2021 - 04/2009
6	Glutathione (Reduced Glutathione)IBA 05/2017 - 03/2009
5	alpha-tocotrienol quinoneIBA 01/2019 - 01/2012
5	Biomarkers (Surrogate Marker)IBA 05/2017 - 03/2009
4	Fatty Acids (Saturated Fatty Acids)IBA 01/2022 - 02/2002
4	Transaminases (Aminotransferases)IBA 11/2021 - 09/2013
4	DNA (Deoxyribonucleic Acid)IBA 01/2019 - 09/2003
4	EnzymesIBA 03/2015 - 01/2008
3	Urea (Carbamide)FDA LinkGeneric 09/2019 - 06/2002
3	Sebelipase alfaIBA 09/2019 - 11/2014
3	Arginine (L-Arginine)FDA Link 01/2018 - 05/2007
3	AntioxidantsIBA 09/2014 - 03/2009
2	triheptanoinIBA 01/2022 - 01/2018
2	Dicarboxylic AcidsIBA 01/2022 - 01/2014
2	Bile Acids and Salts (Bile Acids)IBA 11/2021 - 02/2016
2	Adenosine Monophosphate (AMP)IBA 01/2020 - 11/2018
2	Pharmaceutical PreparationsIBA 01/2020 - 09/2019
2	Sterol Esterase (Hormone-Sensitive Lipase)IBA 09/2019 - 09/2013
2	Methylmalonyl-CoA MutaseIBA 12/2018 - 08/2013
2	ammonul FDA Link 01/2018 - 05/2007
2	Benzoates (Benzoate)IBA 01/2018 - 05/2007
2	phenylacetic acid (phenylacetate)FDA Link 01/2018 - 05/2007
2	Adenosine Triphosphate (ATP)IBA 10/2016 - 12/2012
2	LipidsIBA 09/2015 - 11/2014
2	AcidsIBA 06/2015 - 01/2011
2	quinone (benzoquinone)IBA 12/2012 - 01/2012
2	Lactic Acid (Lactate)FDA LinkGeneric 09/2012 - 02/2008
1	Creatine Kinase (Creatine Phosphokinase)IBA 01/2022
1	Cholic AcidIBA 11/2021
1	Potassium Channels (Potassium Channel)IBA 03/2021
1	PotassiumIBA 03/2021
1	ArginaseIBA 01/2021
1	Lysophosphatidylcholines (Lysophosphatidylcholine)IBA 01/2021
1	AMP-Activated Protein KinasesIBA 01/2020
1	Hypoglycemic Agents (Hypoglycemics)IBA 01/2020
1	Diazoxide (Hyperstat)FDA Link 01/2020
1	Congenital disorder of glycosylation type 1AIBA 01/2020
1	Anticonvulsants (Antiepileptic Drugs)IBA 01/2019
1	N-carbamylglutamateIBA 12/2018
1	Ligases (Synthetase)IBA 12/2018
1	AmmoniaIBA 12/2018
1	fibroblast growth factor 21IBA 12/2018
1	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 11/2018
1	Carnitine-Acylcarnitine Translocase DeficiencyIBA 01/2018
1	Carnitine Acyltransferases (Carnitine-Acylcarnitine Translocase)IBA 01/2018

Therapy/Procedure

19	Therapeutics 01/2022 - 09/2003
8	Liver Transplantation 01/2022 - 09/2008
6	Transplantation 12/2015 - 09/2008
3	Renal Dialysis (Hemodialysis) 01/2010 - 05/2007
2	Enzyme Replacement Therapy 09/2019 - 09/2015
2	Kidney Transplantation 06/2015 - 03/2010