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Go Tajima Selected Research

Medium chain acyl CoA dehydrogenase deficiency

1/2022MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM.
12/2016Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.
5/2016Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan.
2/2012Analysis of plasma ghrelin in patients with medium-chain acyl-CoA dehydrogenase deficiency and glutaric aciduria type II.
9/2005Enzymatic diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by detecting 2-octenoyl-CoA production using high-performance liquid chromatography: a practical confirmatory test for tandem mass spectrometry newborn screening in Japan.

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Go Tajima Research Topics

Disease

7VLCAD deficiency
11/2022 - 12/2008
5Medium chain acyl CoA dehydrogenase deficiency
01/2022 - 09/2005
3Methylmalonic acidemia
07/2021 - 10/2010
3Propionic Acidemia
06/2021 - 10/2010
2Rhabdomyolysis
01/2015 - 12/2011
2Stroke (Strokes)
03/2009 - 08/2005
1Glutaric Acidemia I
07/2021
1Homocystinuria
07/2021
1Hypermethioninemia
07/2021
1Acidosis
06/2021
1Hyperammonemia
06/2021
1Brain Diseases (Brain Disorder)
06/2021
1Fabry Disease (Fabry's Disease)
01/2021
1Mucopolysaccharidosis IV (Morquio Syndrome)
02/2020
1Disease Progression
02/2020
1Paralysis (Palsy)
02/2020
1Trifunctional Protein Deficiency With Myopathy And Neuropathy
01/2019
1hypoglycemic encephalopathy
11/2017
1Maple Syrup Urine Disease
08/2017
1Ornithine Carbamoyltransferase Deficiency Disease
08/2017
1Metabolic Diseases (Metabolic Disease)
03/2017
1Inborn Errors Metabolism (Inborn Errors of Metabolism)
12/2016
1Myoglobinuria
01/2015
1Ventricular Fibrillation
12/2013
1Respiratory Syncytial Virus Infections
12/2013
1Mucopolysaccharidosis II (Hunter Syndrome)
03/2013
1Dysostoses
03/2013
1Multiple Acyl Coenzyme A Dehydrogenase Deficiency
02/2012
1Thrombosis (Thrombus)
10/2010
1isovaleric Acidemia
10/2010
1Short chain Acyl CoA dehydrogenase deficiency
06/2010
1Spasm (Spasms)
05/2009
1Posterior Leukoencephalopathy Syndrome
05/2009
1Epstein-Barr Virus Infections
05/2009

Drug/Important Bio-Agent (IBA)

6Fatty Acids (Saturated Fatty Acids)IBA
11/2022 - 12/2013
5Long-Chain Acyl-CoA Dehydrogenase (Long-Chain-Acyl-Coenzyme A Dehydrogenase)IBA
11/2022 - 12/2008
5Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA
01/2022 - 09/2005
3AcidsIBA
11/2022 - 09/2013
3acylcarnitineIBA
01/2019 - 12/2011
2Proteins (Proteins, Gene)FDA Link
01/2019 - 06/2010
2Carnitine palmitoyl transferase 2 deficiencyIBA
01/2019 - 11/2017
13-hydroxyisovalerylcarnitineIBA
07/2021
13-methylcrotonyl CoA carboxylase 1 deficiencyIBA
07/2021
13-hydroxyglutaric acidIBA
07/2021
1beta-hydroxyisovaleric acid (beta-hydroxy-beta-methylbutyrate)IBA
07/2021
1HomocysteineIBA
07/2021
1Acetylcarnitine (Alcar)IBA
07/2021
1Methionine (L-Methionine)FDA Link
07/2021
1CystathionineIBA
07/2021
1cobamamide (adenosylcobalamin)IBA
07/2021
1propionylcarnitineIBA
07/2021
1GalactosidasesIBA
01/2021
1GlycosphingolipidsIBA
01/2021
1hydroxide ionIBA
01/2019
1Carnitine O-Palmitoyltransferase (Carnitine Palmitoyltransferase II)IBA
01/2019
1Carnitine palmitoyl transferase 1A deficiencyIBA
01/2019
1DeuteriumIBA
01/2019
1Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA
08/2017
1Urea (Carbamide)FDA LinkGeneric
08/2017
1propionyl-coenzyme A (propionyl-CoA)IBA
03/2017
1Coenzyme A (CoA)IBA
03/2017
1Propionyl-Coenzyme A Carboxylase (Propionyl CoA Carboxylase)IBA
03/2017
1methylmalonyl-coenzyme A (methylmalonyl CoA)IBA
03/2017
1Creatine Kinase (Creatine Phosphokinase)IBA
01/2015
1Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric
09/2013
1idursulfaseFDA Link
03/2013
1GhrelinIBA
02/2012
1acyl-ghrelinIBA
02/2012
1Galactose (Galactopyranose)FDA LinkGeneric
10/2010
1BilirubinIBA
10/2010
1Anti-Bacterial Agents (Antibiotics)IBA
10/2010
1Methylmalonic AcidIBA
10/2010
1Butyryl-CoA Dehydrogenase (Short-Chain Acyl-CoA Dehydrogenase)IBA
06/2010
1Congenital disorder of glycosylation type 1AIBA
03/2009
12-hexadecenoyl-coenzyme AIBA
12/2008
1Indicators and Reagents (Reagents)IBA
12/2008
1Radioisotopes (Radionuclides)IBA
09/2005
1Carnitine (L-Carnitine)FDA LinkGeneric
08/2005

Therapy/Procedure

2Enzyme Replacement Therapy
02/2020 - 03/2013
1Decompression
02/2020
1Liver Transplantation
08/2017
1Critical Care (Surgical Intensive Care)
12/2013
1Stem Cell Transplantation
05/2009