Toshihiro Ohura Selected Research

galactose epimerase

10/2021

The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan.

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Toshihiro Ohura Research Topics

Disease

8	Citrullinemia 05/2021 - 05/2003
7	Adult-onset citrullinemia type 2 09/2021 - 05/2003
6	Neonatal-onset citrullinemia type 2 01/2019 - 05/2003
5	Phenylketonurias (Phenylketonuria) 01/2021 - 07/2011
4	Intrahepatic Cholestasis 05/2013 - 05/2003
3	Cholestasis 01/2019 - 03/2005
3	Ornithine Carbamoyltransferase Deficiency Disease 04/2017 - 08/2004
3	Liver Diseases (Liver Disease) 12/2013 - 01/2007
3	Homocystinuria 03/2007 - 09/2004
2	Galactosemias (Galactosemia) 10/2021 - 05/2009
2	Vomiting 04/2017 - 08/2004
2	Coma (Comas) 08/2016 - 01/2005
2	Hypoglycemia (Reactive Hypoglycemia) 12/2013 - 02/2003
2	Intellectual Disability (Idiocy) 12/2013 - 09/2012
2	Mucolipidoses (Sialidosis) 03/2009 - 08/2005
2	Methylmalonic acidemia 01/2007 - 08/2004
1	Gait Ataxia 05/2021
1	Hyperammonemia 05/2021
1	Cognitive Dysfunction 05/2021
1	Epilepsy (Aura) 05/2021
1	Mitochondrial Diseases (Mitochondrial Disease) 05/2021
1	Ketosis 04/2021
1	Maternal Phenylketonuria 01/2021
1	Birth Weight (Birth Weights) 02/2020
1	Liver Failure 01/2019
1	Inborn Urea Cycle Disorders 04/2017
1	Carbamoyl-Phosphate Synthase I Deficiency Disease 04/2017
1	Weight Gain 04/2017
1	Encephalitis (Encephalitis, Rasmussen) 08/2016
1	Seizures (Absence Seizure) 08/2016
1	Zellweger Syndrome (Zellweger's Syndrome) 12/2015
1	Drug-Related Side Effects and Adverse Reactions 12/2014
1	Pancreatitis 12/2013
1	Failure to Thrive 12/2013
1	Fatigue 05/2013
1	Mucopolysaccharidosis I (Hurler Syndrome) 11/2012
1	Mucopolysaccharidosis II (Hunter Syndrome) 11/2012
1	Lactic Acidosis 12/2011
1	Bone Resorption 11/2011
1	Fatty Liver 04/2010
1	Gaucher Disease (Gaucher's Disease) 01/2010
1	Infections 01/2010
1	Disease Progression 01/2010

Drug/Important Bio-Agent (IBA)

9	Proteins (Proteins, Gene)FDA Link 09/2021 - 05/2003
8	citrinIBA 05/2021 - 05/2003
5	EnzymesIBA 10/2021 - 08/2004
4	Phenylalanine (L-Phenylalanine)FDA Link 01/2021 - 10/2004
3	CarbohydratesIBA 09/2021 - 05/2013
3	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 01/2021 - 06/2014
3	VitaminsIBA 01/2019 - 08/2004
3	Bile Acids and Salts (Bile Acids)IBA 03/2005 - 10/2004
3	Methionine (L-Methionine)FDA Link 10/2004 - 05/2003
2	sapropterin (tetrahydrobiopterin)FDA Link 01/2021 - 12/2014
2	CitrullineIBA 04/2017 - 10/2004
2	AmmoniaIBA 04/2017 - 09/2012
2	AcidsIBA 12/2015 - 04/2004
2	Urea (Carbamide)FDA LinkGeneric 05/2009 - 08/2004
2	Cystathionine beta-Synthase (Serine Sulfhydrase)IBA 03/2007 - 04/2006
2	Methylmalonyl-CoA MutaseIBA 01/2007 - 08/2004
2	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 01/2007 - 08/2004
2	Galactose (Galactopyranose)FDA LinkGeneric 10/2004 - 05/2003
2	DNA (Deoxyribonucleic Acid)IBA 05/2003 - 10/2002
1	GalactokinaseIBA 10/2021
1	galactose-1-phosphateIBA 10/2021
1	galactose epimeraseIBA 10/2021
1	saccharopineIBA 05/2021
1	Argininosuccinate Synthase (Argininosuccinate Synthetase)IBA 05/2021
1	Lysine (L-Lysine)FDA Link 05/2021
1	SaccharopinuriaIBA 05/2021
1	OrnithineIBA 05/2021
1	Beta ketothiolase deficiencyIBA 04/2021
1	Glucose (Dextrose)FDA LinkGeneric 04/2021
1	Insulin (Novolin)FDA Link 04/2021
1	Coenzymes (Enzyme Cofactors)IBA 01/2021
1	Lactose FDA LinkGeneric 01/2019
1	Ursodeoxycholic Acid (Urso)FDA LinkGeneric 01/2019
1	Triglycerides (Triacylglycerol)IBA 01/2019
1	Vitamin K 2 (Vitamin K2)IBA 01/2019
1	LipidsIBA 01/2019
1	Amino Acids FDA Link 04/2017
1	N-acetyl glutamate synthetase deficiencyIBA 04/2017
1	Phenobarbital (Luminal)FDA Link 08/2016
1	barbituric acid (barbiturate)IBA 08/2016
1	BarbituratesIBA 08/2016
1	Alanine Transaminase (SGPT)IBA 12/2014
1	Vitamin D FDA LinkGeneric 02/2013
1	Methylmalonic AcidIBA 12/2011
1	Mitochondrial DNA (mtDNA)IBA 12/2011
1	OsteoprotegerinIBA 11/2011
1	CalciumIBA 11/2011
1	IronIBA 04/2010
1	Acid PhosphataseIBA 01/2010
1	Glucosylceramidase (Glucocerebrosidase)IBA 01/2010
1	imiglucerase FDA Link 01/2010
1	Peptidyl-Dipeptidase A (Angiotensin Converting Enzyme)IBA 01/2010

Therapy/Procedure

5	Therapeutics 12/2014 - 02/2003
3	Liver Transplantation 01/2019 - 01/2005
2	Enzyme Replacement Therapy 11/2012 - 01/2010
1	Enteral Nutrition (Feeding, Tube) 02/2020
1	Hematopoietic Stem Cell Transplantation 11/2012