Amita Moirangthem Selected Research

type 1 Rhizomelic chondrodysplasia punctata

1/2021

Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B.

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Amita Moirangthem Research Topics

Disease

2	Thalassemia 07/2023 - 01/2018
1	Acidosis 03/2024
1	Hypoglycemia (Reactive Hypoglycemia) 03/2024
1	Hyperammonemia 03/2024
1	Neurodevelopmental Disorders 05/2023
1	Neurodegeneration with brain iron accumulation (NBIA) 01/2023
1	Nervous System Diseases (Neurological Disorders) 01/2023
1	Homocystinuria 04/2022
1	Methylenetetrahydrofolate reductase deficiency 04/2022
1	Undiagnosed Diseases 03/2022
1	Hemophilia B (Haemophilia B) 02/2022
1	Cataract (Cataracts) 01/2021
1	Refsum Disease (Refsum's Disease) 01/2021
1	Muscle Hypotonia (Hypotonia) 04/2017
1	Reinfection 04/2017
1	Seizures (Absence Seizure) 04/2017
1	Intellectual Disability (Idiocy) 04/2017

Drug/Important Bio-Agent (IBA)

1	Lactic Acid (Lactate)FDA LinkGeneric 03/2024
1	KetonesIBA 03/2024
1	Kell Blood-Group SystemIBA 07/2023
1	IsoantibodiesIBA 07/2023
1	IronIBA 01/2023
1	Methylenetetrahydrofolate Reductase (NADPH2) (Methylenetetrahydrofolate Reductase)IBA 04/2022
1	Uridine Diphosphate (UDP)IBA 03/2022
1	DNA (Deoxyribonucleic Acid)IBA 02/2022
1	type 1 Rhizomelic chondrodysplasia punctataIBA 01/2021
1	Methyl-CpG-Binding Protein 2IBA 04/2017

Therapy/Procedure

1	Genomic Medicine 05/2023
1	Blood Transfusion (Blood Transfusions) 01/2018
1	Ligation 04/2017