Kei Murayama Selected Research

Enoyl-CoA Hydratase

12/2021	Valine metabolites analysis in ECHS1 deficiency.
12/2020	Short-chain enoyl-CoA hydratase deficiency causes prominent ketoacidosis with normal plasma lactate levels: A case report.
1/2020	Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report.

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Kei Murayama Research Topics

Disease

32	Mitochondrial Diseases (Mitochondrial Disease) 09/2022 - 03/2010
12	Leigh Disease (Leigh's Disease) 12/2021 - 03/2010
6	Ornithine Carbamoyltransferase Deficiency Disease 01/2021 - 08/2004
5	Cardiomyopathies (Cardiomyopathy) 10/2019 - 03/2010
4	Brain Diseases (Brain Disorder) 01/2022 - 01/2016
4	Fabry Disease (Fabry's Disease) 08/2019 - 01/2019
3	Adult-onset citrullinemia type 2 01/2022 - 01/2021
3	Disease Progression 01/2022 - 01/2021
3	Neurodegenerative Diseases (Neurodegenerative Disease) 12/2021 - 03/2010
3	Infections 02/2021 - 03/2010
3	Inborn Urea Cycle Disorders 01/2021 - 03/2009
3	Citrullinemia 01/2021 - 03/2009
3	Hyperammonemia 01/2021 - 09/2006
3	Lactic Acidosis 11/2020 - 12/2011
3	Liver Failure 01/2020 - 01/2009
3	MELAS Syndrome (Syndrome, MELAS) 10/2019 - 01/2018
3	Vomiting 12/2016 - 08/2004
3	Inborn Genetic Diseases (Disease, Hereditary) 08/2016 - 10/2006
3	Cytochrome-c Oxidase Deficiency 07/2016 - 03/2010
2	Fanconi Syndrome (Syndrome, Fanconi) 03/2022 - 12/2014
2	Hearing Loss (Hearing Impairment) 03/2022 - 05/2018
2	Status Epilepticus (Complex Partial Status Epilepticus) 01/2022 - 01/2016
2	Muscle Hypotonia (Hypotonia) 01/2022 - 01/2017
2	Gaucher Disease (Gaucher's Disease) 12/2021 - 01/2016
2	Acute Liver Failure (Fulminant Hepatic Failure) 12/2021 - 10/2006
2	Dystonia (Limb Dystonia) 12/2021 - 01/2020
2	Chromosome Aberrations (Chromosome Abnormalities) 10/2021 - 01/2016
2	Acidosis 02/2021 - 12/2020
2	Seizures (Absence Seizure) 02/2021 - 06/2018
2	Argininosuccinic Aciduria 01/2021 - 03/2009
2	Muscle Weakness 10/2019 - 05/2019
2	Stroke (Strokes) 10/2019 - 05/2019
2	Headache (Headaches) 05/2019 - 08/2004
2	Respiratory Insufficiency (Respiratory Failure) 06/2018 - 01/2017
2	Neurologic Manifestations (Neurological Manifestations) 04/2018 - 01/2018
2	Hepatolenticular Degeneration (Wilson's Disease) 01/2018 - 10/2006
2	Diarrhea 12/2016 - 03/2009
2	Dyslipidemias (Dyslipidemia) 03/2016 - 06/2008
2	Body Weight (Weight, Body) 01/2016 - 09/2006
2	Liver Diseases (Liver Disease) 01/2009 - 10/2006
1	Diabetes Mellitus 09/2022
1	Developmental Disabilities (Developmental Disability) 03/2022
1	Pain (Aches) 01/2022
1	Hypophosphatasia 01/2022
1	Myoclonus (Nocturnal Myoclonus) 01/2022
1	Neonatal-onset citrullinemia type 2 01/2022
1	Fatigue 01/2022
1	Paraplegia (Spastic Paraplegia) 12/2021
1	Leukoencephalopathies 12/2021
1	Mitochondrial complex I deficiency 11/2021
1	Left Ventricular Hypertrophy (Ventricular Hypertrophy, Left) 02/2021
1	Vision Disorders (Hemeralopia) 01/2021
1	Hyperargininemia 01/2021

Drug/Important Bio-Agent (IBA)

18	Mitochondrial DNA (mtDNA)IBA 09/2022 - 01/2009
16	Proteins (Proteins, Gene)FDA Link 12/2021 - 09/2006
13	EnzymesIBA 03/2022 - 01/2009
11	Lactic Acid (Lactate)FDA LinkGeneric 07/2022 - 03/2010
7	Pyruvic Acid (Pyruvate)IBA 07/2022 - 03/2010
5	Biomarkers (Surrogate Marker)IBA 01/2021 - 01/2019
5	SodiumIBA 10/2019 - 03/2009
4	DNA (Deoxyribonucleic Acid)IBA 11/2021 - 03/2010
4	Urea (Carbamide)FDA LinkGeneric 01/2021 - 08/2004
4	coenzyme Q10 (CoQ10)IBA 01/2020 - 02/2015
4	globotriaosyl lysosphingolipidIBA 08/2019 - 01/2019
3	RNA (Ribonucleic Acid)IBA 01/2022 - 01/2021
3	Amino Acids FDA Link 12/2021 - 09/2006
3	Enoyl-CoA HydrataseIBA 12/2021 - 01/2020
3	CarbohydratesIBA 09/2021 - 08/2009
3	Indicators and Reagents (Reagents)IBA 04/2021 - 03/2019
3	AcidsIBA 02/2021 - 01/2019
3	Triglycerides (Triacylglycerol)IBA 04/2020 - 10/2007
3	Pharmaceutical PreparationsIBA 06/2017 - 08/2009
2	AntibodiesIBA 09/2022 - 08/2020
2	Electron Transport Complex III (Coenzyme Q-Cytochrome-c Reductase)IBA 03/2022 - 04/2015
2	VitaminsIBA 01/2022 - 06/2018
2	Glucosylceramidase (Glucocerebrosidase)IBA 12/2021 - 01/2016
2	Fatty Acids (Saturated Fatty Acids)IBA 12/2021 - 09/2020
2	Valine (L-Valine)FDA Link 02/2021 - 01/2020
2	Thioctic Acid (Lipoic Acid)IBA 01/2021 - 11/2015
2	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 01/2021 - 01/2018
2	CitrullineIBA 11/2020 - 03/2009
2	ferrous citrate FDA Link 02/2019 - 01/2019
2	Taurine FDA Link 02/2019 - 01/2018
2	Adenosine Triphosphate (ATP)IBA 01/2019 - 03/2009
2	OligonucleotidesIBA 12/2017 - 01/2016
2	Arginine (L-Arginine)FDA Link 03/2009 - 09/2006
1	Insulin (Novolin)FDA Link 09/2022
1	Alkaline PhosphataseIBA 01/2022
1	Adenine Nucleotide Translocator 1IBA 01/2022
1	asfotase alfaIBA 01/2022
1	Anticonvulsants (Antiepileptic Drugs)IBA 01/2022
1	N- (4'- fluorobutyrophenone)- 4- (4- chlorophenyl)pyridinium (HPP(+))IBA 01/2022
1	4-Hydroxyphenylpyruvate DioxygenaseIBA 12/2021
1	X-linked Nuclear ProteinIBA 08/2021

Therapy/Procedure

11	Therapeutics 01/2022 - 09/2006
6	Liver Transplantation 01/2022 - 03/2012
3	Ketogenic Diet 01/2022 - 06/2018
2	Enteral Nutrition (Feeding, Tube) 12/2016 - 12/2014
1	Carbohydrate-Restricted Diet (Low Carbohydrate Diet) 01/2022
1	Renal Dialysis (Hemodialysis) 01/2021