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Fatemeh Dehghanian Selected Research

Amish Infantile Epilepsy Syndrome

8/2021A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report.

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Fatemeh Dehghanian Research Topics

Disease

1Amish Infantile Epilepsy Syndrome
08/2021
1Inborn Genetic Diseases (Disease, Hereditary)
08/2021
1Brain Injuries (Brain Injury)
05/2020
1Phenylketonurias (Phenylketonuria)
02/2017

Drug/Important Bio-Agent (IBA)

1SaltsIBA
08/2021
1Phenylalanine (L-Phenylalanine)FDA Link
02/2017
1Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA
02/2017
1EnzymesIBA
02/2017

Therapy/Procedure

1Transplantation
05/2020