Tehran University of Medical Sciences

Science Communicator Platform

Faculty Members have conducted research related to the Reporting a Novel Disease Causing Variant in Pgap3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review
Arya Sotoudeh

Associate Professor of Pediatric Endocrinology & Metabolism

Department Pediatrics

School of Medicine

Childrens Medical Center

Growth and Development Research Center

Tehran University of Medical Sciences

Related Documents
1. A Novel Missense Mutation of the Hgd Gene Causes Alkaptonuria, Meta Gene (2018)
All Documents
1. Genetic Variability in Maple Syrup Urine Disease: Novel Mutations and Their Pathogenicity in the Iranian Population, Molecular Biology Reports (2026)
2. A Novel Missense Mutation of C.965C>T (P.Ala322val) in the Human Galns Gene Results in Severe Mucopolysaccharidosis Type Iva, Iranian Journal of Pathology (2025)
3. Efficacy and Safety of a Biosimilar Laronidase Versus the Reference Laronidase in Patients With Mucopolysaccharidosis Type I, Scientific Reports (2025)
4. Long-Term Outcomes of Hematopoietic Stem Cell Transplantation in Mucopolysaccharidoses Patients Without Radiation, Clinical Transplantation (2025)
5. Safety and Effectiveness of a Biosimilar Somatropin (Cinnatropin®) in Children and Adolescents Receiving Growth Hormone Therapy Over 1 Year: A Registry-Based Phase Iv Study, European Journal of Pediatrics (2025)
6. Safety and Effectiveness of a Biosimilar Somatropin (Cinnatropin®) in Children and Adolescents Receiving Growth Hormone Therapy Over 1 Year: A Registry-Based Phase Iv Study, European Journal of Pediatrics (2025)
7. Identification of Novel Mutations in the Mmaa and Mut Genes Among Methylmalonic Aciduria Families, Iranian Biomedical Journal (2023)
8. Inborn Errors of Metabolism in Iran: First Report From Iran Metabolic Registry, Iranian Journal of Pediatrics (2023)
9. Mutational Analysis and Genotype Investigation of Less Known Gaucher Mutations Through Haplotype Analysis in Iranian Gaucher Patients, International Journal of Molecular and Cellular Medicine (2023)
10. Comparison of Once-Daily Versus Twice-Daily Injection of Insulin Detemir in Children With Type 1 Diabetes Mellitus, Iranian Journal of Pediatrics (2022)
11. Early and Delayed Puberty Among Iranian Children With Obesity, Minerva Endocrinology (2022)
12. Mesenchymal Stem Cell Transplantation in Newly Diagnosed Type-1 Diabetes Patients: A Phase I/Ii Randomized Placebo-Controlled Clinical Trial, Stem Cell Research and Therapy (2022)
13. 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)
14. Molecular Characterization of a Large Cohort of Mucopolysaccharidosis Patients: Iran Mucopolysaccharidosis Re-Diagnosis Study (Impression), Human Mutation (2022)
15. Molecular Characterization of a Large Cohort of Mucopolysaccharidosis Patients: Iran Mucopolysaccharidosis Re-Diagnosis Study (Impression), Human Mutation (2022)
16. Evaluation of Patients Referred to Children's Medical Center Laboratory for Diagnosis of Mucopolysaccharidoses: Eight Years' Experience From Iran, Journal of Child Science (2021)
17. The Role of Thyroid Function Tests in Diagnosing Allan-Herndon-Dudley Syndrome Revisited: A Novel Iran-Based Mutation, Basic and Clinical Neuroscience (2021)
18. The Treatment and Clinical Follow-Up Outcome in Iranian Patients With Tetrahydrobiopterin Deficiency, Journal of Pediatric Endocrinology and Metabolism (2021)
19. Health-Related Quality of Life of Parents of Children With Phenylketonuria in Tehran Province, Islamic Republic of Iran; [Qualite De Vie Liee a La Sante Des Parents D’Enfants Atteints De Phenylcetonurie Dans La Province De Teheran (Republique Islamique D’Iran)], Eastern Mediterranean Health Journal (2020)
20. P.Gln318x and P.Val281leu As the Major Variants of Cyp21a2 Gene in Children With Idiopathic Premature Pubarche, International Journal of Endocrinology (2020)
21. A Case of H Syndrome With a Novel Mutation in Slc29a3, Meta Gene (2019)
22. Identification of Eleven Different Mutations Including Six Novel, in the Arylsulfatase B Gene in Iranian Patients With Mucopolysaccharidosis Type Vi, Molecular Biology Reports (2019)
23. 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)
24. 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)
25. A Genotype-First Approach for Clinical and Genetic Evaluation of Wolcott-Rallison Syndrome in a Large Cohort of Iranian Children With Neonatal Diabetes, Canadian Journal of Diabetes (2018)
26. A Novel Missense Mutation of the Hgd Gene Causes Alkaptonuria, Meta Gene (2018)
27. Autozygosity Mapping of Methylmalonic Acidemia Associated Genes by Short Tandem Repeat Markers Facilitates the Identification of Five Novel Mutations in an Iranian Patient Cohort, Metabolic Brain Disease (2018)
28. Can Untreated Pku Patients Escape From Intellectual Disability? a Systematic Review, Orphanet Journal of Rare Diseases (2018)
29. Growth Failure in a Series of Iranian Patients With Juvenile Idiopathic Arthritis, Iranian Journal of Pediatrics (2018)
30. Molecular Genetics of a Cohort of 635 Cases of Phenylketonuria in a Consanguineous Population, Journal of Inherited Metabolic Disease (2018)
31. Pharmacogenomics in Diabetes: Outcomes of Thiamine Therapy in Trma Syndrome, Diabetologia (2018)
32. A Novel Variant in the Pah Gene Causing Phenylketonuria in an Iranian Pedigree, Avicenna Journal of Medical Biotechnology (2017)
33. Assessment of Sexual Maturation Among Boys in Special Schools of Tehran, Iran, International Journal of Pediatrics (2017)
34. Diagnosing Mucopolysaccharidosis Type Iv a by the Fluorometric Assay of N-Acetylgalactosamine-6-Sulfate Sulfatase Activity, Journal of Diabetes and Metabolic Disorders (2017)
35. Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa Iia, Cutis Laxa Iib, and Geroderma Osteoplastica, International Journal of Molecular Sciences (2017)
36. Four Years of Diagnostic Challenges With Tetrahydrobiopterin Deficiencies in Iranian Patients, JIMD Reports (2017)
37. Genetic Study of the Pah Locus in the Iranian Population: Familial Gene Mutations and Minihaplotypes, Metabolic Brain Disease (2017)
38. Identification of a Novel Mutation in the Pah Gene in an Iranian Phenylketonuria Family: A Case Report, Iranian Journal of Public Health (2017)
39. Pericentric Inversion of Chromosome 9 in an Infant With Ambiguous Genitalia, Acta Medica Iranica (2017)
40. Status of Bone Mineral Density in Children With Type 1 Diabetes Mellitus and Its Related Factors, Iranian Journal of Pediatrics (2017)
41. The Effect of Metformin As an Adjunct Therapy in Adolescents With Type 1 Diabetes, Journal of Clinical and Diagnostic Research (2017)
42. Two Novel Mutations in the Argininosuccinate Lyase Gene in Iranian Patients and Literature Review, Iranian Journal of Pediatrics (2017)
43. An Efficient Trio-Based Mini-Haplotyping Method for Genetic Diagnosis of Phenylketonuria, Cell Journal (2016)
44. Assessment of Sexual Maturation Among Girls With Special Needs in Tehran, Iran, Iranian Journal of Pediatrics (2016)
45. Assessment of Vitamin D Status and Response to Vitamin D3 in Obese and Non-Obese Iranian Children, Journal of Tropical Pediatrics (2016)
46. Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: Report of Three Cases From Iran, Journal of Pediatric Endocrinology and Metabolism (2016)
47. Identification of Six Novel Mutations in Iranian Patients With Maple Syrup Urine Disease and Their in Silico Analysis, Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis (2016)
48. Inborn Errors of Metabolism-Clinical Findings and Laboratory Tests at the Children’S Medical Center, Tehran, Iran, Iranian Journal of Pediatrics (2016)
49. Altered Suppressor Function of Regulatory T Cells in Type 1 Diabetes, Iranian Journal of Immunology (2015)
50. Hyperostosis-Hyperphosphatemia Syndrome (Hhs): Report of Two Cases With a Recurrent Mutation and Review of the Literature, Journal of Pediatric Endocrinology and Metabolism (2015)
51. Intellectual and Developmental Status in Children With Hyperphenylalaninemia and Pku Who Were Screened in a National Program, Iranian Journal of Pediatrics (2015)
52. Molecular Characterization of Qdpr Gene in Iranian Families With Bh4 Deficiency: Reporting Novel and Recurrent Mutations, JIMD Reports (2015)
53. Tetrahydrobiopterin Responsiveness in a Series of 53 Cases of Phenylketonuria and Hyperphenylalaninemia in Iran, Molecular Genetics and Metabolism Reports (2015)
54. Timing of Puberty in Iranian Girls According to Their Living Area: A National Study, Journal of Research in Medical Sciences (2011)