Tehran University of Medical Sciences

Science Communicator Platform

Faculty Members have conducted research related to the Early Onset Classic Isovaleric Aciduria Caused by Two Novel Ivd Variants Identified by Whole Exome Sequencing (Wes)
Parastoo Rostami
Parastoo Rostami

Associate Professor of Pediatric Endocrinology & Metabolism

Department Pediatrics

School of Medicine

Childrens Medical Center

Growth and Development Research Center

Tehran University of Medical Sciences

All Documents
1. Tlr7 F507s Gain-Of-Function Mutation Presenting With Early-Onset Sle and Hypertriglyceridemia: Response to Jak Inhibition, Journal of Human Immunity (2026)
2. Complete Complement Factor I (Cfi) Deficiency: A Systematic Review of Forty-Nine Patients Including Three Novel Cases, BMC Immunology (2025)
3. Comprehensive Iranian Guidelines for the Diagnosis and Management of Maple Syrup Urine Disease: An Evidence- and Consensus- Based Approach, Orphanet Journal of Rare Diseases (2025)
4. Comprehensive Iranian Guidelines for the Diagnosis and Management of Maple Syrup Urine Disease: An Evidence- and Consensus- Based Approach, Orphanet Journal of Rare Diseases (2025)
5. Gaucher Disease: An Updated Guide to Diagnosis and Management and Patients Presentation, Gaucher Disease: An Updated Guide to Diagnosis and Management and patients presentation (2025)
6. Investigating the Prevalence of Emotional-Behavioral Problems in Children With Type 1 Diabetes; [بررسی شیوع مشکلات عاطفی-رفتاری در کودکان مبتلا به دیابت تیپ یک], Tehran University Medical Journal (2025)
7. Overview Assessment of Gaucher Disease, Gaucher Disease: An Updated Guide to Diagnosis and Management and patients presentation (2025)
8. Overview of Clinical Presentation: Pathologic and Radiologic Findings of Gaucher Disease, Gaucher Disease: An Updated Guide to Diagnosis and Management and patients presentation (2025)
9. Overview of Diagnostic Approach to Gaucher Disease, Gaucher Disease: An Updated Guide to Diagnosis and Management and patients presentation (2025)
10. Overview of Gaucher Disease, Gaucher Disease: An Updated Guide to Diagnosis and Management and patients presentation (2025)
11. Overview of Lysosomal Storage Diseases (Lsds), Gaucher Disease: An Updated Guide to Diagnosis and Management and patients presentation (2025)
12. Overview of Patients With Gaucher Disease From Iran, Gaucher Disease: An Updated Guide to Diagnosis and Management and patients presentation (2025)
13. Overview of Patients With Gaucher Disease From Iran, Gaucher Disease: An Updated Guide to Diagnosis and Management and patients presentation (2025)
14. Overview Treatment of Gaucher Disease, Gaucher Disease: An Updated Guide to Diagnosis and Management and patients presentation (2025)
15. Preface, Gaucher Disease: An Updated Guide to Diagnosis and Management and patients presentation (2025)
16. The Neurologic Face of X-Linked Lymphoproliferative Syndrome Type 1: A Systematic Review, Orphanet Journal of Rare Diseases (2025)
17. Determination of Bone Density by Dexa Method Based on Bone Age and Its Comparison With Chronological Age in Chronic Patients, Mediterranean Journal of Rheumatology (2023)
18. Inborn Errors of Metabolism in Iran: First Report From Iran Metabolic Registry, Iranian Journal of Pediatrics (2023)
19. Pediatric Endocrinopathies Related to Covid-19: An Update, World Journal of Pediatrics (2023)
20. A Suggested Screening Method for Hypothyroidism in Very Preterm And/Or Very Low Birth Weight Neonates, Revista Paulista de Pediatria (2022)
21. Comparison of Once-Daily Versus Twice-Daily Injection of Insulin Detemir in Children With Type 1 Diabetes Mellitus, Iranian Journal of Pediatrics (2022)
22. Early and Delayed Puberty Among Iranian Children With Obesity, Minerva Endocrinology (2022)
23. Molecular and Clinical Characterization of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (Apeced) in Iranian Non-Jewish Patients: Report of Two Novel Aire Gene Pathogenic Variants, Orphanet Journal of Rare Diseases (2022)
24. Placenta Derived Mesenchymal Stem Cells Transplantation in Type 1 Diabetes: Preliminary Report of Phase 1 Clinical Trial, Journal of Diabetes and Metabolic Disorders (2021)
25. Genotype-Phenotype Correlation and Description of Two Novel Mutations in Iranian Patients With Glycogen Storage Disease 1B (Gsd1b), Orphanet Journal of Rare Diseases (2020)
26. Primary Creatine Deficiency Syndrome As a Potential Missed Diagnosis in Children With Psychomotor Delay and Seizure: Case Presentation With Two Novel Variants and Literature Review, Acta Neurologica Belgica (2020)
27. Relationship Between Body Mass Index, Fatty Liver, Lipids Profile, Carotid Intima-Media Thickness and Subcutaneous and Visceral Fat Determined by Ultrasound, Iranian Journal of Pediatrics (2020)
28. Molecular Investigation of Mutations in Androgen Receptor and 5-Alpha-Reductase-2 Genes in 46,Xy Disorders of Sex Development With Normal Testicular Development, Andrologia (2019)
29. Role of Vitamin D and Vitamin D Receptor Gene Polymorphisms on Residual Beta Cell Function in Children With Type 1 Diabetes Mellitus, Pharmacological Reports (2019)
30. Clinical Presentation and Outcome in Infantile Sandhoff Disease: A Case Series of 25 Patients From Iranian Neurometabolic Bioregistry With Five Novel Mutations Dr. Segolene Ayme, Orphanet Journal of Rare Diseases (2018)
31. The First Report of Relative Incidence of Inherited White Matter Disorders in an Asian Country Based on an Iranian Bioregistry System, Journal of Child Neurology (2018)
32. Early Infantile Presentation of 3-Methylglutaconic Aciduria Type 1 With a Novel Mutation in Auh Gene: A Case Report and Literature Review, Brain and Development (2017)
33. Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy, Iranian Journal of Child Neurology (2017)
34. Pericentric Inversion of Chromosome 9 in an Infant With Ambiguous Genitalia, Acta Medica Iranica (2017)
35. Prevalence of Dental Abnormalities in Different Calcium Metabolism Disorders in a Group of Iranian Children, Biomedical Research (India) (2017)
36. Status of Bone Mineral Density in Children With Type 1 Diabetes Mellitus and Its Related Factors, Iranian Journal of Pediatrics (2017)
37. Two Novel Mutations in the Argininosuccinate Lyase Gene in Iranian Patients and Literature Review, Iranian Journal of Pediatrics (2017)
38. Inborn Errors of Metabolism-Clinical Findings and Laboratory Tests at the Children’S Medical Center, Tehran, Iran, Iranian Journal of Pediatrics (2016)
39. Methylmalonic Acidemia With Emergency Hypertension; [Acidemia Metilmalonica Con Hipertension De Emergencia], Nefrologia (2016)