Tehran University of Medical Sciences

Science Communicator Platform

Faculty Members have conducted research related to the Clinical Characterization and Mutation Analysis of 13 Iranian Ataxia Telangiectasia Patients: Introducing Two Novel Mutations
Sedigheh Shams
Sedigheh Shams

Professor of Biochemistry

Department Pathology

School of Medicine

Childrens Medical Center

Tehran University of Medical Sciences

All Documents
1. Point-Of-Care Salivary Oxidative and Renal Functional Markers to Assess Kidney Function in Reperfusion-Induced Acute Kidney Injury in Male Rats, Hormone Molecular Biology and Clinical Investigation (2023)
2. Alteration of Plasma Amino Acid Concentrations in Iranian Children With Covid-19, International Journal of Pediatrics (United Kingdom) (2022)
3. Molecular Characterization of a Large Cohort of Mucopolysaccharidosis Patients: Iran Mucopolysaccharidosis Re-Diagnosis Study (Impression), Human Mutation (2022)
4. Molecular Characterization of a Large Cohort of Mucopolysaccharidosis Patients: Iran Mucopolysaccharidosis Re-Diagnosis Study (Impression), Human Mutation (2022)
5. Evaluation of Patients Referred to Children's Medical Center Laboratory for Diagnosis of Mucopolysaccharidoses: Eight Years' Experience From Iran, Journal of Child Science (2021)
6. Plasma Changes of Branched-Chain Amino Acid in Patients With Esophageal Cancer, Middle East Journal of Digestive Diseases (2021)
7. Clinical Significance of Plasma Levels of Gluconeogenic Amino Acids in Esophageal Cancer Patients, Asian Pacific Journal of Cancer Prevention (2020)
8. The Impact of Sex Differences on Renal Protective Effects of Lipopolysaccharide Preconditioning in Septic Shock, Iranian Journal of Medical Sciences (2020)
9. Identification of Eleven Different Mutations Including Six Novel, in the Arylsulfatase B Gene in Iranian Patients With Mucopolysaccharidosis Type Vi, Molecular Biology Reports (2019)
10. A Novel Compound Heterozygote Mutation in the Arsb Gene in a Patient With Maroteaux-Lamy Syndrome and Its Insilico Evaluation, Meta Gene (2018)
11. Reference Interval for Plasma Free Amino Acids in Iranian Children Using Reverse Phase High Performance Liquid Chromatography, Iranian Journal of Pediatrics (2018)
12. Serum Total Antioxidant Capacity of Epileptic Children Before and After Monotherapy With Sodium Valproate, Carbamazepine, and Phenobarbital, Iranian Journal of Child Neurology (2018)
13. Diagnosing Mucopolysaccharidosis Type Iv a by the Fluorometric Assay of N-Acetylgalactosamine-6-Sulfate Sulfatase Activity, Journal of Diabetes and Metabolic Disorders (2017)
14. Evaluation of Serum Hepcidin and Iron Levels in Patients With Pcos: A Case-Control Study, Journal of Endocrinological Investigation (2017)
15. Evaluation of Serum Adenosine Deaminase in Cystic Fibrosis Patients in an Iranian Referral Hospital, Iranian Journal of Pediatrics (2016)
16. Evaluation of Serum Transferrin Receptors in Children With Iron Deficiency Anemia, Acta Medica Mediterranea (2016)
17. Reduction of Hemorrhagic Shock–Induced Acute Kidney Injury by Lower Limb Ischemic Preconditioning in Rats, Physiology and Pharmacology (2015)
18. Tetrahydrobiopterin Responsiveness in a Series of 53 Cases of Phenylketonuria and Hyperphenylalaninemia in Iran, Molecular Genetics and Metabolism Reports (2015)