Advanced Techniques in Biology & Medicine
Open Access

Department of Neurogenetics, Iranian Center of Neurological Research(ICNR), Tehran University of Medical Sciences(TUMS), Tehran, Iran

Biography

Shirin Moarefian is from Department of Neurogenetics, Iranian Center of Neurological Research(ICNR), Tehran University of Medical Sciences(TUMS), Tehran, Iran. Shirin Moarefian research interest are Metabolic Diseases,Affective Disorder,DiabetesAffective Disorder,Pathogenic variants. Shirin Moarefian research had been published in a number of major international journals.

Publications

• Research Article   
  Clinical, Laboratory Data and Outcomes of 17 Iranian Citrullinemia Type1 Patients: Identification of Five Novel ASS1 Gene Mutations
  Author(s): Shirin Moarefian*, Mahdi Zamani, Ali Rahmanifar, Babak Behnam* and Talieh Zaman
  
  Background: Citrullinemia type 1 (CTLN1) is an autosomal recessive metabolic disease caused by ASS1 gene mutations encoding argininosuccinic acid synthase enzyme which is within the pathway of arginine and nitric oxide biosynthesis. Methods: Disease confirmation was done by ASS1 gene mutation analysis using Next Generation Sequencing, DNA Sanger sequencing and bioinformatics. The study group members were17 citrullinemia type1 patients from 10 unrelated families referred to Iranian National Society for the Study of Inborn Errors of Metabolism’s clinic between 2008-2020. Clinical, laboratory and molecular data were retrospectively evaluated. Results: Eleven different ASS1 gene mutations were detected. Presentation: 3/17 (76%) neonatal, 3/17 (18%) late infantile, 1/17(6%) asymptomatic. Severe developmental delay.. View More»
  DOI: 10.35248/2379-1764.21.9.308

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