Kei Murayama Selected Research

Citrullinemia

1/2021	Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
1/2021	Analysis of daily energy, protein, fat, and carbohydrate intake in citrin-deficient patients: Towards prevention of adult-onset type II citrullinemia.
3/2009	Evaluation of endogenous nitric oxide synthesis in congenital urea cycle enzyme defects.

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Kei Murayama Research Topics

Disease

38	Mitochondrial Diseases (Mitochondrial Disease) 03/2024 - 03/2010
13	Leigh Disease (Leigh's Disease) 07/2023 - 03/2010
7	Brain Diseases (Brain Disorder) 01/2024 - 02/2018
6	Cardiomyopathies (Cardiomyopathy) 09/2022 - 03/2010
6	Ornithine Carbamoyltransferase Deficiency Disease 01/2021 - 08/2004
5	Fabry Disease (Fabry's Disease) 03/2023 - 01/2019
4	Adult-onset citrullinemia type 2 09/2023 - 01/2021
4	Inborn Urea Cycle Disorders 05/2023 - 03/2009
4	Infections 01/2023 - 03/2010
3	Acute Liver Failure (Fulminant Hepatic Failure) 01/2023 - 10/2006
3	Disease Progression 01/2022 - 01/2021
3	Neurodegenerative Diseases (Neurodegenerative Disease) 12/2021 - 03/2010
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	Deoxyguanosine Kinase Deficiency 01/2024 - 01/2020
2	Neonatal-onset citrullinemia type 2 09/2023 - 01/2022
2	Focal Segmental Glomerulosclerosis (Glomerulosclerosis, Focal) 06/2023 - 01/2020
2	Infantile Spasms (West Syndrome) 01/2023 - 01/2020
2	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 09/2022 - 01/2017
2	Hypoglycemia (Reactive Hypoglycemia) 09/2022 - 10/2007
2	Hearing Loss (Hearing Impairment) 03/2022 - 05/2018
2	Fanconi Syndrome (Syndrome, Fanconi) 03/2022 - 12/2014
2	Muscle Hypotonia (Hypotonia) 01/2022 - 01/2017
2	Gaucher Disease (Gaucher's Disease) 12/2021 - 01/2016
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	Galactosemias (Galactosemia) 05/2024
1	Cataract (Cataracts) 05/2024

Drug/Important Bio-Agent (IBA)

21	Mitochondrial DNA (mtDNA)IBA 03/2024 - 01/2009
17	Proteins (Proteins, Gene)FDA Link 12/2022 - 09/2006
13	EnzymesIBA 03/2022 - 01/2009
11	Lactic Acid (Lactate)FDA LinkGeneric 07/2022 - 03/2010
8	Pyruvic Acid (Pyruvate)IBA 07/2023 - 03/2010
5	Amino Acids FDA Link 09/2023 - 09/2006
5	coenzyme Q10 (CoQ10)IBA 03/2023 - 02/2015
5	Biomarkers (Surrogate Marker)IBA 01/2021 - 01/2019
5	SodiumIBA 10/2019 - 03/2009
4	AcidsIBA 05/2023 - 01/2019
4	DNA (Deoxyribonucleic Acid)IBA 11/2021 - 03/2010
4	Urea (Carbamide)FDA LinkGeneric 01/2021 - 08/2004
4	globotriaosyl lysosphingolipidIBA 08/2019 - 01/2019
3	Adenosine Triphosphate (ATP)IBA 03/2024 - 03/2009
3	CitrullineIBA 09/2023 - 03/2009
3	Arginine (L-Arginine)FDA Link 09/2023 - 09/2006
3	Fatty Acids (Saturated Fatty Acids)IBA 05/2023 - 09/2020
3	RNA (Ribonucleic Acid)IBA 01/2022 - 01/2021
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	Triglycerides (Triacylglycerol)IBA 04/2020 - 10/2007
2	Mitochondrial Proteins (Mitochondrial Protein)IBA 03/2024 - 01/2016
2	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 11/2023 - 08/2016
2	Carnitine (L-Carnitine)FDA LinkGeneric 09/2023 - 09/2020
2	citrinIBA 09/2023 - 01/2021
2	Bile Acids and Salts (Bile Acids)IBA 09/2023 - 06/2008
2	Thiamine (Aneurin)FDA Link 05/2023 - 09/2022
2	GalactosidasesIBA 03/2023 - 01/2019
2	Methylmalonic AcidIBA 03/2023 - 12/2011
2	Adenosine Triphosphatases (ATPase)IBA 12/2022 - 03/2016
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	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	ferrous citrate FDA Link 02/2019 - 01/2019
2	Taurine FDA Link 02/2019 - 01/2018
2	OligonucleotidesIBA 12/2017 - 01/2016
1	galactose mutarotaseIBA 05/2024
1	Galactose (Galactopyranose)FDA LinkGeneric 05/2024
1	Lactose FDA LinkGeneric 05/2024
1	Codon (Codons)IBA 03/2024
1	N-methyl-valyl-amiclenomycin (BA 2)IBA 01/2024
1	N-(2-cyanoethylene)urea (BA 1)IBA 01/2024
1	glutarylcarnitineIBA 09/2023

Therapy/Procedure

11	Therapeutics 01/2022 - 09/2006
7	Liver Transplantation 01/2024 - 03/2012
3	Ketogenic Diet 01/2022 - 06/2018
2	Renal Dialysis (Hemodialysis) 03/2023 - 01/2021
2	Enteral Nutrition (Feeding, Tube) 12/2016 - 12/2014