Publications by authors named "Aria Setoodeh"

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Genetic variability in maple syrup urine disease: novel mutations and their pathogenicity in the Iranian population.
Mansooreh Jafari, Fatemeh Karami, Iman Salahshourifar, Aria Setoodeh, Ali Rahmanifar

Mol Biol Rep· December 2025

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Efficacy and safety of a biosimilar laronidase versus the reference laronidase in patients with mucopolysaccharidosis type I.
Ali Rabbani, Mohammadreza Alaei, Samaneh Norouzi Asl, Aria Setoodeh, Marjan Shakiba

Sci Rep· August 2025

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Long-Term Outcomes of Hematopoietic Stem Cell Transplantation in Mucopolysaccharidoses Patients Without Radiation.
Mohammad Jahanpanah, Leila Jafari, Maryam Behfar, Nadia Alipour, Farah Ahad, Aria Setoodeh

Clin Transplant· June 2025

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A Rare Case of ACTH-Secreting Pituitary Adenoma in a Pediatric Patient. Diagnosis and Management: Case Report and Literature Review.
Shadi Niliyeh, Fatemeh Sayarifard, Ali Moradi, Aria Setoodeh, Pouya Ebrahimi

Clin Case Rep· April 2025

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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.
Ali Rabbani, Maryam Razzaghy-Azar, Zohreh Karamizadeh, Mahin Hashemipour, Rahim Vakili, Aria Setoodeh

Eur J Pediatr· March 2025

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A Novel Missense Mutation of c.965C>T (p.Ala322Val) in the Human Gene Results in Severe Mucopolysaccharidosis Type IVA.
Moeinadin Safavi, Aria Setoodeh, Mahdiieh Ghoddoosi

Iran J Pathol· January 2025

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Identification of Novel Mutations in the MMAA and MUT Genes among Methylmalonic Aciduria Families.
Mahboobeh Jafari, Fatemeh Karami, Aria Setoodeh, Ali Rahmanifar, Hamideh Bagherian

Iran Biomed J· February 2023

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Mutational Analysis and Genotype Investigation of Less Known Gaucher Mutations through Haplotype Analysis in Iranian Gaucher Patients.
Negar Sardarpour, Hamideh Bagherian, Fatemeh Zafarghandi Motlagh, Tina Shirzadeh, Sadaf Asnavandi, Aria Setoodeh

Int J Mol Cell Med· January 2023

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Early and delayed puberty among Iranian children with obesity.
Reihaneh Mohsenipour, Farzaneh Abbasi, Aria Setoodeh, Fatemeh Sayarifard, Parastoo Rostami

Minerva Endocrinol (Torino)· June 2022

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Mesenchymal stem cell transplantation in newly diagnosed type-1 diabetes patients: a phase I/II randomized placebo-controlled clinical trial.
Mahmoud Izadi, Anavasadat Sadr Hashemi Nejad, Maedeh Moazenchi, Safdar Masoumi, Ali Rabbani, Aria Setoodeh

Stem Cell Res Ther· June 2022

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Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion).
Saeed R Ghaffari, Maryam Rafati, Mahdi Shadnoush, Shokooh Pourbabaee, Mohammad Aghighi, Aria Setoodeh

Hum Mutat· April 2022

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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.
Aria Setoodeh, Samareh Panjeh-Shahi, Fariba Bahmani, Fatemeh Vand-Rajabpour, Nazanin Jalilian

Orphanet J Rare Dis· January 2022

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The treatment and clinical follow-up outcome in Iranian patients with tetrahydrobiopterin deficiency.
Soghra Khani, Mina Barzegari, Zahra Esmaeilizadeh, Pantea Farsian, Mohammadreza Alaei, Aria Setoodeh

J Pediatr Endocrinol Metab· September 2021

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p.Gln318X and p.Val281Leu as the Major Variants of Gene in Children with Idiopathic Premature Pubarche.
Mahdieh Soveizi, Nejat Mahdieh, Aria Setoodeh, Fatemeh Sayarifard, Farzaneh Abbasi

Int J Endocrinol· May 2020

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Health-related quality of life of parents of children with phenylketonuria in Tehran Province, Islamic Republic of Iran.
Koorosh Etemad, Alireza Heidari, Aria Setoodeh, Amir Shayeganrad, Atoosa Akhlaghi

East Mediterr Health J· March 2020

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Molecular investigation of mutations in androgen receptor and 5-alpha-reductase-2 genes in 46,XY Disorders of Sex Development with normal testicular development.
Mohamadreza Ahmadifard, Abdolmohamad Kajbafzadeh, Samareh Panjeh-Shahi, Fatemeh Vand-Rajabpour, Reza Ahmadi-Beni, Aria Setoodeh

Andrologia· June 2019

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Identification of eleven different mutations including six novel, in the arylsulfatase B gene in Iranian patients with mucopolysaccharidosis type VI.
Rokhsareh Jafaryazdi, Sedigheh Shams, Anna Isaian, Aria Setoodeh, Shahram Teimourian

Mol Biol Rep· June 2019

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Role of vitamin D and vitamin D receptor gene polymorphisms on residual beta cell function in children with type 1 diabetes mellitus.
Narges Habibian, Mahsa M Amoli, Farzaneh Abbasi, Ali Rabbani, Abbas Alipour, Aria Setoodeh

Pharmacol Rep· April 2019

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Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.
Tina Shirzadeh, Amir Hossein Saeidian, Hamideh Bagherian, Shadab Salehpour, Aria Setoodeh

J Inherit Metab Dis· November 2018

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Autozygosity mapping of methylmalonic acidemia associated genes by short tandem repeat markers facilitates the identification of five novel mutations in an Iranian patient cohort.
Mehdi Shafaat, Mohammad Reza Alaee, Ali Rahmanifar, Aria Setoodeh, Maryam Razzaghy-Azar

Metab Brain Dis· October 2018

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Can untreated PKU patients escape from intellectual disability? A systematic review.
Danique van Vliet, Annemiek M J van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Nenad Blau, Aria Setoodeh

Orphanet J Rare Dis· August 2018

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Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.
Abdelhadi M Habeb, Sarah E Flanagan, Mohamed A Zulali, Mohamed A Abdullah, Renata Pomahačová, Aria Setoodeh

Diabetologia· May 2018

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Genetic study of the PAH locus in the Iranian population: familial gene mutations and minihaplotypes.
Masoumeh Razipour, Elaheh Alavinejad, Seyede Zahra Sajedi, Saeed Talebi, Mona Entezam, Aria Setoodeh

Metab Brain Dis· October 2017

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Diagnosing Mucopolysaccharidosis type IV a by the fluorometric assay of N-Acetylgalactosamine-6-sulfate sulfatase activity.
Sedigheh Shams, Maliheh Barazandeh Tehrani, Gabriel Civallero, Koosha Minookherad, Roberto Giugliani, Aria Setoodeh

J Diabetes Metab Disord· September 2017

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A Novel Variant in the Gene Causing Phenylketonuria in an Iranian Pedigree.
Elaheh Alavinejad, Seyede Zahra Sajedi, Masoumeh Razipour, Mona Entezam, Neda Mohajer, Aria Setoodeh

Avicenna J Med Biotechnol· January 2017

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