Paper Details

Tehran University of Medical Sciences

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):

Faculty Members have conducted research related to the Identification of a Novel Homozygous Mutation of the Bckdhb Gene in an Iranian Patient With Maple Syrup Disease Using Next-Generation Sequencing

Mohammad Kazem Bakhshandeh-Bali

Mohammad Kazem Bakhshandeh-Bali

Assistant Professor of Pediatric Neurology

Department Pediatrics

School of Medicine

Hakim Children Hospital,Baharlou Hospital

Tehran University of Medical Sciences

Related Documents

1. Brown-Vialetto-Van Laere Syndrome and Fazio-Londe Syndrome: A Novel Mutation and in Silico Analyses, Journal of Clinical Neuroscience (2020)

All Documents

1. Mutational Spectrum and Clinical Symptoms of Iranian Patients With Charcot-Marie-Tooth Disease: A Study of 23 Patients, Journal of Iranian Medical Council (2023)

2. Next-Generation Sequencing Approach to Molecular Diagnosis of Iranian Patients With Duchenne/Becker Muscular Dystrophy: Several Novel Variants Identified, eNeurologicalSci (2023)

3. Corrigendum to “Brown-Vialetto-Van Laere Syndrome and Fazio-Londe Syndrome: A Novel Mutation and in Silico Analyses” [J. Clin. Neurosci. 72 (2020) 342–349, (S0967586819319289), (10.1016/J.Jocn.2020.01.040)], Journal of Clinical Neuroscience (2022)

4. Clinical Spectrum in Multiple Families With Primary Coq10 Deficiency, American Journal of Medical Genetics# Part A (2021)

5. Brown-Vialetto-Van Laere Syndrome and Fazio-Londe Syndrome: A Novel Mutation and in Silico Analyses, Journal of Clinical Neuroscience (2020)

6. Ictal Electroencephalographic Findings in Children With Migraine Headache, Iranian Journal of Child Neurology (2019)

7. Comparative Efficacy of Zonisamide and Pregabalin As an Adjunctive Therapy in Children With Refractory Epilepsy, Iranian Journal of Child Neurology (2015)

8. Comparison of Propranolol and Pregabalin for Prophylaxis of Childhood Migraine: A Randomised Controlled Trial, Acta Medica Iranica (2015)