Purvi Majethia Selected Research

Muscle Hypotonia (Hypotonia)

1/2021

Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia.

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Purvi Majethia Research Topics

Disease

2	Epilepsy (Aura) 02/2024 - 01/2023
2	Brain Diseases (Brain Disorder) 01/2022 - 09/2021
2	Leukoencephalopathies 09/2021 - 01/2021
1	Neurodegeneration with brain iron accumulation (NBIA) 01/2023
1	Nervous System Diseases (Neurological Disorders) 01/2023
1	Neurodevelopmental Disorders 01/2023
1	Progressive Myoclonic 3 Epilepsy 01/2022
1	Brain Edema (Cerebral Edema) 09/2021
1	Muscle Hypotonia (Hypotonia) 01/2021
1	Lactic Acidosis 01/2021
1	Myoclonic Epilepsies (Myoclonic Encephalopathy) 01/2021
1	Movement Disorders (Movement Disorder) 01/2021
1	Seizures (Absence Seizure) 01/2021
1	Nonketotic Hyperglycinemia 01/2021
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2021
1	Lethargy 01/2021

Drug/Important Bio-Agent (IBA)

2	Proteins (Proteins, Gene)FDA Link 01/2023 - 01/2022
1	NucleotidesIBA 02/2024
1	Voltage-Gated Potassium Channels (Voltage-Gated Potassium Channel)IBA 01/2023
1	IronIBA 01/2023
1	fibroblast growth factor 13IBA 01/2022
1	NAD (NADH)IBA 09/2021
1	Hydro-Lyases (Dehydratases)IBA 09/2021
1	Glycine (Aminoacetic Acid)FDA LinkGeneric 01/2021
1	cysteinyl-tRNA synthetaseIBA 01/2021

Therapy/Procedure

1	Precision Medicine 02/2024