Yosuke Shigematsu Selected Research

VLCAD deficiency

11/2022	Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency via 13C-fatty acid loading test.
1/2022	The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening.
1/2019	Evaluation of Metabolic Defects in Fatty Acid Oxidation Using Peripheral Blood Mononuclear Cells Loaded with Deuterium-Labeled Fatty Acids.
7/2015	Successful management of pregnancy with very-long-chain acyl-coenzyme A dehydrogenase deficiency.
1/2015	A heterozygous missense mutation in adolescent-onset very long-chain acyl-CoA dehydrogenase deficiency with exercise-induced rhabdomyolysis.
12/2013	VLCAD deficiency in a patient who recovered from ventricular fibrillation, but died suddenly of a respiratory syncytial virus infection.
12/2008	Development of a new enzymatic diagnosis method for very-long-chain Acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan.
1/2004	[A case of skeletal muscle type very-long-chain-acyl CoA dehydrogenase(VLCAD) deficiency with repeated rhabdomyolysis].
7/2003	Selective screening for fatty acid oxidation disorders by tandem mass spectrometry: difficulties in practical discrimination.

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Yosuke Shigematsu Research Topics

Disease

9	VLCAD deficiency 11/2022 - 07/2003
5	Medium chain acyl CoA dehydrogenase deficiency 09/2018 - 09/2005
5	Propionic Acidemia 09/2018 - 08/2002
4	Hypoglycemia (Reactive Hypoglycemia) 11/2015 - 08/2002
3	Citrullinemia 09/2018 - 10/2004
3	Rhabdomyolysis 01/2015 - 01/2004
3	Hyperammonemia 05/2012 - 08/2002
2	Disorders of Excessive Somnolence (Hypersomnia) 10/2022 - 12/2018
2	Narcolepsy 10/2022 - 12/2018
2	Methylmalonic acidemia 07/2021 - 10/2010
2	Trifunctional Protein Deficiency With Myopathy And Neuropathy 01/2019 - 09/2017
2	Cardiomyopathies (Cardiomyopathy) 01/2017 - 05/2012
2	Multiple Acyl Coenzyme A Dehydrogenase Deficiency 11/2014 - 02/2012
2	Intellectual Disability (Idiocy) 12/2013 - 09/2012
2	isovaleric Acidemia 10/2010 - 11/2007
2	Neonatal-onset citrullinemia type 2 05/2009 - 10/2004
2	Acute Kidney Injury (Acute Renal Failure) 03/2005 - 01/2004
1	Glutaric Acidemia I 07/2021
1	Hypermethioninemia 07/2021
1	Homocystinuria 07/2021
1	Hemophagocytic Lymphohistiocytosis (Hemophagocytic Syndrome) 01/2019
1	Fever (Fevers) 01/2019
1	Mevalonate Kinase Deficiency 01/2019
1	Cataplexy 12/2018
1	Lysinuric Protein Intolerance 10/2018
1	Ornithine Carbamoyltransferase Deficiency Disease 10/2018
1	Phenylketonurias (Phenylketonuria) 09/2018
1	Metabolic Diseases (Metabolic Disease) 09/2018
1	Sepsis (Septicemia) 03/2018
1	hypoglycemic encephalopathy 11/2017
1	Acute fatty liver of pregnancy 09/2017
1	Hemolysis 09/2017
1	Hepatomegaly 01/2017
1	Liver Neoplasms (Liver Cancer) 01/2017
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 12/2016
1	Fructose-1,6-Diphosphatase Deficiency (Fructose 1,6 Diphosphatase Deficiency) 11/2015
1	Lactic Acidosis 11/2015
1	Maple Syrup Urine Disease 09/2015
1	Adult-onset citrullinemia type 2 03/2015
1	Inborn Genetic Diseases (Disease, Hereditary) 03/2015
1	Ketosis 01/2015
1	Myoglobinuria 01/2015
1	Succinyl-CoA:3-oxoacid CoA transferase deficiency 01/2015

Drug/Important Bio-Agent (IBA)

11	Fatty Acids (Saturated Fatty Acids)IBA 11/2022 - 08/2002
6	Long-Chain Acyl-CoA Dehydrogenase (Long-Chain-Acyl-Coenzyme A Dehydrogenase)IBA 11/2022 - 01/2004
5	Carnitine palmitoyl transferase 2 deficiencyIBA 01/2019 - 07/2003
5	acylcarnitineIBA 01/2019 - 07/2003
4	Carnitine O-Palmitoyltransferase (Carnitine Palmitoyltransferase II)IBA 10/2022 - 03/2005
4	Proteins (Proteins, Gene)FDA Link 01/2019 - 06/2010
4	Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA 12/2016 - 09/2005
4	Carnitine (L-Carnitine)FDA LinkGeneric 04/2014 - 08/2005
3	AcidsIBA 11/2022 - 01/2015
3	citrinIBA 10/2018 - 10/2004
3	EnzymesIBA 09/2017 - 07/2003
2	beta-hydroxyisovaleric acid (beta-hydroxy-beta-methylbutyrate)IBA 07/2021 - 04/2014
2	3-methylcrotonyl CoA carboxylase 1 deficiencyIBA 07/2021 - 09/2018
2	Methionine (L-Methionine)FDA Link 07/2021 - 10/2004
2	Carnitine palmitoyl transferase 1A deficiencyIBA 01/2019 - 07/2003
2	Amino Acids FDA Link 09/2018 - 04/2014
2	Oxidoreductases (Dehydrogenase)IBA 09/2015 - 11/2014
2	Creatine Kinase (Creatine Phosphokinase)IBA 01/2015 - 01/2004
2	Anti-Bacterial Agents (Antibiotics)IBA 10/2010 - 11/2007
1	3-hydroxyisovalerylcarnitineIBA 07/2021
1	3-hydroxyglutaric acidIBA 07/2021
1	CystathionineIBA 07/2021
1	cobamamide (adenosylcobalamin)IBA 07/2021
1	propionylcarnitineIBA 07/2021
1	Acetylcarnitine (Alcar)IBA 07/2021
1	HomocysteineIBA 07/2021
1	mevalonate kinaseIBA 01/2019
1	Transaminases (Aminotransferases)IBA 01/2019
1	DeuteriumIBA 01/2019
1	hydroxide ionIBA 01/2019
1	HLA-DQB1 antigen (HLA DQB1)IBA 12/2018
1	HLA Antigens (Human Leukocyte Antigens)IBA 12/2018
1	Carbamyl Phosphate (Carbamoyl Phosphate)IBA 10/2018
1	Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA 10/2018
1	ArginaseIBA 10/2018
1	Amino-Acid N-Acetyltransferase (N-Acetylglutamate Synthase)IBA 10/2018
1	Ligases (Synthetase)IBA 10/2018
1	methylcyanocarbamate dimerIBA 09/2018
1	ProcalcitoninIBA 03/2018
1	Mitochondrial Trifunctional ProteinIBA 09/2017
1	Systemic carnitine deficiencyIBA 01/2017
1	6-propylchromone-2-carboxylic acid (PCCA)IBA 07/2016
1	SolventsIBA 11/2015
1	Aspartic Acid (Aspartate)FDA Link 03/2015
1	Glutamic Acid (Glutamate)FDA Link 03/2015
1	AntiportersIBA 03/2015
1	Coenzyme A (CoA)IBA 01/2015
1	KetonesIBA 01/2015
1	Acetyl-CoA C-Acyltransferase (beta Ketothiolase)IBA 01/2015
1	Acetyl-CoA C-Acetyltransferase (Acetyl Coenzyme A Acetyltransferase)IBA 01/2015
1	TransferasesIBA 01/2015
1	Beta ketothiolase deficiencyIBA 01/2015
1	succinyl-coenzyme A (succinyl-CoA)IBA 01/2015
1	Electron-Transferring Flavoproteins (Electron Transfer Flavoprotein)IBA 11/2014
1	BezafibrateIBA 11/2014
1	Riboflavin (Vitamin B2)FDA LinkGeneric 11/2014

Therapy/Procedure

2	Liver Transplantation 01/2017 - 05/2012