Tehran University of Medical Sciences

Science Communicator Platform

Faculty Members have conducted research related to the Whole Exome Sequencing Revealed New Variants and Haplotypes Associated With Monogenic Obesity
Reihaneh Mohsenipour

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. Early Onset Classic Isovaleric Aciduria Caused by Two Novel Ivd Variants Identified by Whole Exome Sequencing (Wes), Journal of Laboratory Medicine (2026)
2. Identification of a Novel Acadsb Variant for the Presymptomatic Diagnosis of 2-Methylbutyryl-Coa Dehydrogenase Deficiency Through Newborn Screening in Iran, Orphanet Journal of Rare Diseases (2026)
3. Impact of Hematopoietic Stem Cell Transplantation on Growth Outcomes in Mucopolysaccharidosis: A Systematic Review, Clinical and Experimental Pediatrics (2025)
4. 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)
5. Long-Term Outcomes of Hematopoietic Stem Cell Transplantation in Mucopolysaccharidoses Patients Without Radiation, Clinical Transplantation (2025)
6. Overview of Gaucher Disease, Gaucher Disease: An Updated Guide to Diagnosis and Management and patients presentation (2025)
7. Lead Poisoning As a Differential Diagnosis in Pediatric Patients With Chronic Abdominal Pain: A Case–Control Study in Tehran-Iran, BMC Gastroenterology (2024)
8. Atrial Septal Defect Device Closure in Patients With Metabolic or Genetic Diseases, Iranian Journal of Pediatrics (2023)
9. Inborn Errors of Metabolism in Iran: First Report From Iran Metabolic Registry, Iranian Journal of Pediatrics (2023)
10. Pediatric Endocrinopathies Related to Covid-19: An Update, World Journal of Pediatrics (2023)
11. Early and Delayed Puberty Among Iranian Children With Obesity, Minerva Endocrinology (2022)
12. Familial Hemophagocytic Lymphohistiocytosis Secondary to Unc13d Mutation: A Report of Two Cases, BMC Pediatrics (2022)
13. Relationship Between a Near Melanocortin-4 Receptor Gene Variant and Puberty Timing in Children Is Vague Unlike Obesity, Journal of Diabetes and Metabolic Disorders (2022)
14. The Complications of Total Parenteral Nutrition and the Contributing Factors in Children in Tehran, Iran, International Journal of Nutrition Sciences (2022)
15. Thiamine Deficiency in Children With Type I Diabetes Mellitus and Ketoacidosis Hospitalized in a Referral Pediatric Hospital in 2019 - 2020, Iranian Journal of Pediatrics (2022)
16. Novel Treatment for Congenital Disorder of Glycosylation in a Patient With Novel Homozygote Mutation of Pmm2: A Case Report and Review Literature, Endocrine# Metabolic and Immune Disorders - Drug Targets (2021)
17. Placenta Derived Mesenchymal Stem Cells Transplantation in Type 1 Diabetes: Preliminary Report of Phase 1 Clinical Trial, Journal of Diabetes and Metabolic Disorders (2021)
18. Antibiotic Susceptibility of Bacterial Agents Causing Meningitis in Children Older Than 1 Month, Drug Research (2020)
19. Multifactorial Neonatal Thrombosis in Inferior Vena Cava Dislodged to the Right Atrium: A Case Report, Iranian Journal of Neonatology (2020)
20. Overview of Aseptic Meningitis After Mmr Vaccination in a Group of Iranian Infants in Children's Medical Center, Tehran University Medical Journal (2020)
21. A Case of H Syndrome With a Novel Mutation in Slc29a3, Meta Gene (2019)
22. A 13.5-Year Old Boy With Abdominal Pain and Weight Loss and Chronic Intussusception, International Journal of Pediatrics (2017)
23. Assessment of Causative Factors of Febrile Seizure Related to a Group of Children in Iran, Biomedical Research (India) (2017)
24. Pericentric Inversion of Chromosome 9 in an Infant With Ambiguous Genitalia, Acta Medica Iranica (2017)
25. Prevalence of Dental Abnormalities in Different Calcium Metabolism Disorders in a Group of Iranian Children, Biomedical Research (India) (2017)
26. The Relationship Between Sonographic Findings, and Clinical and Paraclinical Symptoms in Henoch Schonlein Purpura, Iranian Journal of Pediatrics (2017)
27. Caustic Agent Ingestion by a 1.5-Year-Old Boy, Acta Medica Iranica (2016)