Tehran University of Medical Sciences

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Faculty Members have conducted research related to the Inborn Errors of Metabolism-Clinical Findings and Laboratory Tests at the Children’S Medical Center, Tehran, Iran
Fatemeh Sayarifard

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. Genetic Variant Profiling of Neonatal Diabetes Mellitus in Iranian Patients: Unveiling 58 Distinct Variants in 14 Genes, Journal of Diabetes Investigation (2024)
2. Genetic Variant Profiling of Neonatal Diabetes Mellitus in Iranian Patients: Unveiling 58 Distinct Variants in 14 Genes, Journal of Diabetes Investigation (2024)
3. 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)
4. Inborn Errors of Metabolism in Iran: First Report From Iran Metabolic Registry, Iranian Journal of Pediatrics (2023)
5. Comparison of Once-Daily Versus Twice-Daily Injection of Insulin Detemir in Children With Type 1 Diabetes Mellitus, Iranian Journal of Pediatrics (2022)
6. Early and Delayed Puberty Among Iranian Children With Obesity, Minerva Endocrinology (2022)
7. Global Perspective on Pediatric Growth Hormone Registries: A Systematic Review, Journal of Pediatric Endocrinology and Metabolism (2022)
8. 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)
9. 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)
10. 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)
11. Depression in Iranian Children With Diabetes and Related Factors, Iranian Journal of Pediatrics (2020)
12. P.Gln318x and P.Val281leu As the Major Variants of Cyp21a2 Gene in Children With Idiopathic Premature Pubarche, International Journal of Endocrinology (2020)
13. 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)
14. A Case of H Syndrome With a Novel Mutation in Slc29a3, Meta Gene (2019)
15. Mucopolysaccharidosis Type I in Children, a Forgotten Diagnosis Responsible for Undiagnosed Musculoskeletal Complaints: Report of Two Cases, Acta Medica (2019)
16. 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)
17. Type 1 Diabetes Genetic Risk Score Discriminates Between Monogenic and Type 1 Diabetes in Children Diagnosed at the Age of <5 Years in the Iranian Population, Diabetic Medicine (2019)
18. Thyroid Function Tests in Critically Ill Children; Any Correlation With Disease Severity or Outcome?, Iranian Journal of Pediatrics (2018)
19. Assessment of Sexual Maturation Among Boys in Special Schools of Tehran, Iran, International Journal of Pediatrics (2017)
20. Comparison of Bone Mineral Density in Common Variable Immunodeficiency and X-Linked Agammaglobulinaemia Patients, Endocrine# Metabolic and Immune Disorders - Drug Targets (2017)
21. Comparison of Bone Mineral Density in Common Variable Immunodeficiency and X-Linked Agammaglobulinaemia Patients, Endocrine, Metabolic and Immune Disorders - Drug Targets (2017)
22. Hypothyroidism Among Pediatric Patients With Type 1 Diabetes Mellitus, From Patients’ Characteristics to Disease Severity, Clinical Pediatric Endocrinology (2017)
23. Investigation of Serum 25 Hydroxy Vitamin D Level in Critically Ill Children and Its Relation With Demographic and Clinical Risk Factors, Biomedical Research (India) (2017)
24. Prevalence of Acanthosis Nigricans and Related Factors in Iranian Obese Children, Journal of Clinical and Diagnostic Research (2017)
25. Status of Bone Mineral Density in Children With Type 1 Diabetes Mellitus and Its Related Factors, Iranian Journal of Pediatrics (2017)
26. The Effect of Metformin As an Adjunct Therapy in Adolescents With Type 1 Diabetes, Journal of Clinical and Diagnostic Research (2017)
27. Two Novel Mutations in the Argininosuccinate Lyase Gene in Iranian Patients and Literature Review, Iranian Journal of Pediatrics (2017)
28. Assessment of Sexual Maturation Among Girls With Special Needs in Tehran, Iran, Iranian Journal of Pediatrics (2016)
29. Assessment of Vitamin D Status and Response to Vitamin D3 in Obese and Non-Obese Iranian Children, Journal of Tropical Pediatrics (2016)
30. Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: Report of Three Cases From Iran, Journal of Pediatric Endocrinology and Metabolism (2016)
31. Inborn Errors of Metabolism-Clinical Findings and Laboratory Tests at the Children’S Medical Center, Tehran, Iran, Iranian Journal of Pediatrics (2016)
32. Intellectual and Developmental Status in Children With Hyperphenylalaninemia and Pku Who Were Screened in a National Program, Iranian Journal of Pediatrics (2015)
33. Pediatric Glioblastoma Multiforme in Association With Turner's Syndrome: A Case Report, Pediatric Neurosurgery (2015)
34. Proptosis, Micrognathia, Low Set Ear and Chest Deformity in a Patient With Extra Marker Chromosome 22, Acta Medica Iranica (2015)