Search Results - "Vakili, Rahim"

Effects of Trehalose Administration in Patients with Mucopolysaccharidosis Type III by Mobini, Moein, Radbakhsh, Shabnam, Kubaski, Francyne, Eshraghi, Peyman, Vakili, Saba, Vakili, Rahim, Abbasifard, Mitra, Jamialahmadi, Tannaz, Rajabi, Omid, Emami, Seyed Ahmad, Tayarani-Najaran, Zahra, Rizzo, Manfredi, Eid, Ali H, Banach, Maciej, Sahebkar, Amirhossein

“…Mucopolysaccharidosis type III (MPS III) is a rare autosomal recessive lysosomal storage disease (LSD) caused by a deficiency of lysosomal enzymes required for…”
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Primordial Dwarfism: A Case Series From North East of Iran and Literature Review by Vakili, Rahim, Hashemian, Somayyeh

“…Introduction: Primordial dwarfism is a rare class of genetic disorders, characterized by intrauterine growth retardation, short stature at birth and growth…”
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Genetic variant profiling of neonatal diabetes mellitus in Iranian patients: Unveiling 58 distinct variants in 14 genes by Mianesaz, Hamidreza, Ghalamkari, Safoura, Abbasi, Farzaneh, Razzaghy‐Azar, Maryam, Sayarifard, Fatemeh, Vakili, Rahim, Sedghi, Maryam, Noroozi Asl, Samaneh, Hosseini, Sousan, Amoli, Mahsa M, Yaghootkar, Hanieh

“…ABSTRACT Introduction Neonatal diabetes mellitus (NDM) is a rare non‐immunological monogenic disorder characterized by hyperglycemic conditions primarily…”
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Mutational analysis of ARSB gene in mucopolysaccharidosis type VI: identification of three novel mutations in Iranian patients by Malekpour, Nasrin, Vakili, Rahim, Hamzehloie, Tayebeh

“…Mucopolysaccharidosis VI (MPS VI) or Maroteaux-Lamy syndrome is a rare metabolic disorder, resulting from the deficient activity of the lysosomal enzyme…”
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Investigating Genetic Mutations in a Large Cohort of Iranian Patients with Congenital Hyperinsulinism by Razzaghy-Azar, Maryam, Saeedi, Saeedeh, Dayani, Sepideh Borhan, Enayati, Samaneh, Abbasi, Farzaneh, Hashemian, Somayyeh, Eshraghi, Peyman, Karimdadi, Siroos, Tajdini, Parisa, Vakili, Rahim, Amoli, Mahsa M., Yaghootkar, Hanieh

“…Congenital hyperinsulinism (CHI) is the most frequent cause of severe and persistent hypoglycaemia from birth. Understanding the pathophysiology and genetic…”
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A novel variant luteinizing hormone receptor in the first transmembrane helix of two homozygous Iranian patients: case report by Sharif, Samaneh, Vakili, Saba, Mobini, Moein, Lotfi, Malihe, Zarei, Fatemeh, Abbaszadegan, Mohammad Reza, Vakili, Rahim

“…Background Leydig cell hypoplasia (LCH) is a rare autosomal recessive endocrine syndrome that affects the normal development of male external genitalia in 46,…”
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Novel DNA variation of GPR54 gene in familial central precocious puberty by Ghaemi, Nosrat, Ghahraman, Martha, Noroozi Asl, Samaneh, Vakili, Rahim, Fardi Golyan, Fatemeh, Moghbeli, Meysam, Abbaszadegan, Mohammad Reza

“…Puberty can be considered the end point of a maturation process which is defined by the dynamic interactions of genes and environmental factors during prenatal…”
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Ultrasonographic Changes of the Uterus and Ovaries in Female Infants with Congenital Adrenal Hyperplasia: Pseudo-Testicular Sign by Seyed Ali Alamdaran, Soroush Dashtabi, Armin Sani, Vakili Rahim, Somayeh Hashemian

“…Background: Congenital Adrenal Hyperplasia (CAH) is one of the main causes of ambiguous genitalia. The unusual appearance of internal genitalia in CAH patients…”
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Clinical Efficacy Evaluation of Sirolimus in Congenital Hyperinsulinism by Zamanfar, Daniel, Vakili, Rahim, Karimdadi, Siroos, Jafarzadeh Esfehani, Reza, Hashemian, Somayyeh, Sahebkar, Amirhossein

“…Background. Congenital hyperinsulinism (CHI) is a rare and life-threatening genetic disorder. Sirolimus as a mammalian target of rapamycin inhibitor may be…”
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Meier-Gorlin syndrome with prenatal ultrasound findings and successful growth hormone therapy: Six years follow-up of a rare case by Vakili, Rahim, Mobini, Moein, Hatami, Farbod, Vakili, Saba, Valizadeh, Niloufar

“…Meire-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by a triad of short stature, microtia, and absent or hypoplastic patella. We…”
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Congenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child by Khorasani, Efat, Vakili, Rahim

“…Congenital adrenal hyperplasia (CAH) is a group of hereditary diseases, which are autosomal recessive. CAH occurs due to defect in one of the cortisol coding…”
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Identification of mutations in Iranian patients’ DAX-1 gene with X-linked adrenal hypoplasia congenital by Davoodnejad, Mahdieh, Eshraghi, Peyman, vakili, Rahim, Hamzehloie, Tayebeh

“…X-linked adrenal hypoplasia congenital (X-linked AHC) is a rare disorder, characterized by infantile-onset acute primary adrenal insufficiency and…”
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Genotyping of ABCC8, KCNJ11, and HADH in Iranian Infants with Congenital Hyperinsulinism by Hashemian, Somayyeh, Esfehani, Reza Jafarzadeh, Karimdadi, Siroos, Ghaemi, Nosrat, Eshraghi, Peyman, Gonabadi, Najmeh Malekzadeh, Sahebkar, Amirhossein, Vakili, Rahim, Abbaszadegan, Mohammad Reza

“…Background. Congenital hyperinsulinism (CHI) is a heterogeneous disease with various underlying genetic causes. Among different genes considered effective in…”
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Placenta Site Trophoblastic Tumor and Choriocarcinoma from Previous Cesarean Section Scar: Case Reports by Nasiri, MSc, Setare, Sheikh Hasani, MSc, Shahrzad, Mousavi, MSc, Azamosadat, Modarres Gilani, MSc, Mitra, Akhavan, MSc, Setare, Vakili, MSc, Mohammad Rahim

“…Choriocarcinoma and placental site trophoblastic tumor (PSTT) are rare varieties of gestational trophoblastic disease (GTD). PSTT alone constitutes about 1-2%…”
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Factors Associated with Newly Diagnosed Children with Diabetic Ketoacidosis by Mirsadraee, Raheleh, Khajedaluee, Mohamad, Vakili, Rahim, Hasanabade, Azam, Saeedrezaee, Zahra

“…Background: Diabetes mellitus type 1 is one of the most prevalent endocrine diseases in pediatrics. Diabetic ketoacidosis is considered as one of the most…”
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Comparison of Novel Coronary Artery Disease Risk Factors between Obese and Normal Adolescent by Kouzehgaran, Samaneh, Vakili, Rahim, Nematy, Mohsen, Safarian, Mohamad, Ghayour-Mobarhan, Majid, Khajedaluee, Mohamad

“…Coronary artery disease is considered as the most common cause of death in all societies including Iran. This study seeks to compare the new risk factors of…”
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Novel mutation in the SLC19A2 gene in an Iranian family with thiamine-responsive megaloblastic anemia: a series of three cases by Ghaemi, Nosrat, Ghahraman, Martha, Abbaszadegan, Mohammad Reza, Baradaran-Heravi, Alireza, Vakili, Rahim

“…Thiamine-responsive megaloblastic anemia (TRMA) is a clinical triad characterized by megaloblastic anemia, non-autoimmune diabetes mellitus, and sensory-neural…”
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Comparison of body mass index in children of two different regions of welfare by Shapouri Moghadam, Abbas, Safarian, Mohammad, Vakili, Rahim, Ehteshamfar, Seyed Morteza

“…Socioeconomic basis of children obesity is of high importance for preventive policies. This study aimed to compare the prevalence of obesity among children…”
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Effects of Performing Low-Level Laser on Cesarean Section Scar by Elham Saffarieh, Setare Nassiri, Ramin Pazoki, Mohammad Rahim Vakili, Majid Mirmohammadkhani

“…Objectives: Evaluating the effects of low-level laser (LLL) application on pain relief and abdominal scar formation in cesarean section (C-section) incision…”
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Persistent Hyperinsulinemic Hypoglycemia of Infancy: A Rare Case with Multiple Anomalies by Zohre Sadat Sangsefidi, Rahim Vakili, Ahmadreza Zarifian, Nona Zabolinejad, Abdolreza Norouzy, Fatemeh Ghafouri-Taleghani, Bahare Imani

“…Background: Few cases of persistent hyperinsulinemic hypoglycemia of infancy (PHHI) have been reported, so far. The main concern in the management of PHHI is…”
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