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Hideo Sugie Selected Research

Phosphoglucomutase

2/2020[Electrophysiological evidence of impaired neuromuscular junction in a case of phosphoglucomutase 1 deficiency manifesting fluctuating muscle weakness].
1/2019Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion.

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Hideo Sugie Research Topics

Disease

5Glycogen Storage Disease Type II (Pompe's Disease)
12/2016 - 01/2011
4Glycogen Storage Disease (Glycogenosis)
07/2019 - 03/2004
3Hypoglycemia (Reactive Hypoglycemia)
07/2019 - 08/2004
3Glycogen Storage Disease Type V (McArdle's Disease)
03/2012 - 09/2003
3Autistic Disorder (Autism)
06/2005 - 01/2003
2Muscular Diseases (Myopathy)
12/2022 - 03/2009
2VLCAD deficiency
11/2020 - 01/2004
2Glycogen Storage Disease Type IV (Andersen's Disease)
09/2020 - 12/2018
2Glycogen Storage Disease XIV
02/2020 - 01/2019
2Hepatomegaly
07/2019 - 08/2004
1Phosphoglycerate Kinase 1 Deficiency
12/2022
1Hemolytic Anemia
12/2022
1Glycogen Storage Disease Type Ix
04/2022
1Inborn Genetic Diseases (Disease, Hereditary)
11/2020
1Muscle Weakness
02/2020
1Myasthenia Gravis
02/2020
1Neuromuscular Junction Diseases
02/2020
1Cleft Palate (Palate, Cleft)
01/2019
1Epilepsy (Aura)
12/2018
1Diabetes Mellitus
01/2017
1Hyperglycemia
01/2017
1Multiple Acyl Coenzyme A Dehydrogenase Deficiency
11/2014
1Optic Neuritis (Retrobulbar Neuritis)
06/2014
1Acute Disseminated Encephalomyelitis (Postinfectious Encephalomyelitis)
06/2014
1Ketosis
02/2014
1Neuroblastoma
03/2012
1Neoplasms (Cancer)
03/2012
1Respiratory Insufficiency (Respiratory Failure)
03/2012
1Opsoclonus-Myoclonus Syndrome (Kinsbourne Syndrome)
03/2012
1Syncope (Fainting)
02/2012
1Myalgia
02/2012
1Focal Nodular Hyperplasia
06/2010
1Glycogen Storage Disease Type VI (Glycogenosis Type VI)
06/2010
1Neutral Lipid Storage Disease with Myopathy
03/2009
1Chanarin-Dorfman Syndrome
03/2009
1Distal Myopathies (Distal Muscular Dystrophy)
08/2008
1Dilated Cardiomyopathy (Cardiomyopathy, Congestive)
08/2008
1Type 1 Diabetes Mellitus (Autoimmune Diabetes)
08/2004
1Rhabdomyolysis
01/2004
1Acute Kidney Injury (Acute Renal Failure)
01/2004
1Fever (Fevers)
09/2003

Drug/Important Bio-Agent (IBA)

3GlycogenIBA
09/2020 - 09/2003
3EnzymesIBA
02/2020 - 03/2004
3Creatine Kinase (Creatine Phosphokinase)IBA
01/2019 - 09/2003
3Phosphorylases (Glucan Phosphorylase)IBA
06/2010 - 09/2003
3Fluvoxamine (Luvox)FDA LinkGeneric
06/2005 - 01/2003
2Fatty Acids (Saturated Fatty Acids)IBA
11/2020 - 07/2019
2Long-Chain Acyl-CoA Dehydrogenase (Long-Chain-Acyl-Coenzyme A Dehydrogenase)IBA
11/2020 - 01/2004
2AntibodiesIBA
02/2020 - 06/2014
2PhosphoglucomutaseIBA
02/2020 - 01/2019
2Transaminases (Aminotransferases)IBA
01/2019 - 08/2004
2Insulin (Novolin)FDA Link
01/2017 - 08/2004
2AcidsIBA
12/2016 - 01/2011
2GlucosidasesIBA
12/2016 - 03/2012
2LipidsIBA
03/2009 - 08/2008
2Selective Serotonin Reuptake Inhibitors (Serotonin Reuptake Inhibitors)IBA
05/2003 - 01/2003
1Phosphoglycerate Kinase (Kinase, Phosphoglycerate)IBA
12/2022
1Phosphorylase Kinase (Phosphorylase Kinase, Glycogen)IBA
04/2022
1AmylopectinIBA
09/2020
1Galactose (Galactopyranose)FDA LinkGeneric
02/2020
1KetonesIBA
07/2019
1Proteins (Proteins, Gene)FDA Link
12/2018
1Carbamazepine (Tegretol)FDA LinkGeneric
12/2018
1Adenosine Triphosphate (ATP)IBA
01/2017
1alpha-Glucosidases (Acid Maltase)IBA
12/2016
1Electron-Transferring Flavoproteins (Electron Transfer Flavoprotein)IBA
11/2014
1BezafibrateIBA
11/2014
1Riboflavin (Vitamin B2)FDA LinkGeneric
11/2014
1acylcarnitineIBA
11/2014
1Oxidoreductases (Dehydrogenase)IBA
11/2014
1AutoantibodiesIBA
06/2014
1Myelin-Oligodendrocyte GlycoproteinIBA
06/2014
1Pyruvic Acid (Pyruvate)IBA
02/2014
1Lactic Acid (Lactate)FDA LinkGeneric
02/2014
1Acid PhosphataseIBA
05/2012
1Dexamethasone (Maxidex)FDA LinkGeneric
03/2012
1Vitamin B 6IBA
03/2012
1Muscle Glycogen Storage Disease 0IBA
02/2012
1Acyl Coenzyme A (Acyl CoA)IBA
03/2009
1Systemic carnitine deficiencyIBA
03/2009
1Nonsense Codon (Nonsense Mutation)IBA
11/2008
1Codon (Codons)IBA
11/2008
1Serotonin Plasma Membrane Transport Proteins (Serotonin Transporter)IBA
06/2005
1Liver GlycogenIBA
08/2004
1Serotonin (5 Hydroxytryptamine)IBA
05/2003
15-HT2A Serotonin Receptor (5 HT2A Receptor)IBA
01/2003
1Pharmaceutical PreparationsIBA
01/2003
1Serotonin ReceptorsIBA
01/2003

Therapy/Procedure

3Enzyme Replacement Therapy
12/2016 - 03/2012
1Therapeutics
09/2015
1Activities of Daily Living (ADL)
03/2012
1Mechanical Ventilators (Ventilator)
03/2012
1Renal Dialysis (Hemodialysis)
01/2004