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Rie Anzai Selected Research

Type IIB Congenital Disorder Of Glycosylation

3/2021Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction.

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Rie Anzai Research Topics

Disease

1Type IIB Congenital Disorder Of Glycosylation
03/2021
1Aromatic amino acid decarboxylase deficiency
11/2016
1Ataxia (Dyssynergia)
06/2015
1Leukoencephalopathies
06/2015
1Intellectual Disability (Idiocy)
08/2014
1Developmental Disabilities (Developmental Disability)
08/2014
1Drug Resistant Epilepsy
02/2014
1Hyperphosphatasia with Mental Retardation
02/2014
1Congenital Disorders of Glycosylation
02/2014
1Hyperthyroidism
10/2012
1Cardiac Arrhythmias (Arrythmia)
10/2012
1Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder)
10/2012
1Thyroid Hormone Resistance Syndrome (Thyroid Hormone Resistance)
10/2012
1Febrile Seizures (Febrile Seizure)
07/2011
1Asthma (Bronchial Asthma)
07/2011

Drug/Important Bio-Agent (IBA)

1OligosaccharidesIBA
03/2021
1Glycoproteins (Glycoprotein)IBA
03/2021
1Transferrin (beta 2 Transferrin)IBA
03/2021
1Monoamine Oxidase (MAO)IBA
11/2016
1Peptide Initiation Factors (Initiation Factor)IBA
06/2015
1Eukaryotic Initiation Factor-2B (Eukaryotic Initiation Factor 2B)IBA
06/2015
1X-linked Creatine deficiencyIBA
08/2014
1Alkaline PhosphataseIBA
02/2014
1Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA
02/2014
1Fatty Acids (Saturated Fatty Acids)IBA
02/2014
13,3',5-triiodothyroacetic acid (Triac)IBA
10/2012
1Thyrotropin (Thyroid-Stimulating Hormone)FDA Link
10/2012
1Thyroxine (Levothyroxine)FDA LinkGeneric
10/2012
1Theophylline (Theon)FDA LinkGeneric
07/2011

Therapy/Procedure

1Therapeutics
10/2012