Mutation analysis and clinical characterization of Iranian patients with mucopolysaccharidosis type I

Author:

Taghikhani Mohammad1,Khatami Shohreh2,Abdi Mohammad34ORCID,Hakhamaneshi Mohammad Said4,Alaei Mohammad Reza5,Zamanfar Daniel6,Vakili Rahim7

Affiliation:

1. Department of Clinical Biochemistry, Faculty of Medical Sciences Tarbiat Modares University Tehran Iran

2. Department of Biochemistry Pasteur Institute of Iran Tehran Iran

3. Cellular and Molecular Research Center Research Institute for Health Development Kurdistan University of Medical Sciences Sanandaj Iran

4. Department of Clinical Biochemistry, Faculty of Medicine Kurdistan University of Medical Sciences Sanandaj Iran

5. Department of Pediatric, Faculty of Medicine Shahid Beheshti University of Medical Sciences Tehran Iran

6. Department of Pediatric, Faculty of Medicine Mazandaran University of Medical Sciences Sari Iran

7. Department of Pediatrics, Imam Reza Hospital Mashhad University of Medical Sciences Mashhad Iran

Funder

Tarbiat Modares University

Publisher

Wiley

Subject

Microbiology (medical),Biochemistry, medical,Medical Laboratory Technology,Clinical Biochemistry,Public Health, Environmental and Occupational Health,Hematology,Immunology and Allergy

Reference22 articles.

1. ClarkeLA.Mucopolysaccharidosis type I. In: GeneReviews at GeneTests: medical genetics information resource (database online). Copyright University of Washington Seattle;1993.

2. Enzyme replacement therapy with laronidase (Aldurazyme((R))) for treating mucopolysaccharidosis type I;Jameson E;Cochrane Database Syst Rev,2016

3. Epidemiology of mucopolysaccharidoses

4. Mucopolysaccharidoses ‐ clinical spectrum and frequency of different types;Cheema HA;J Coll Physicians Surg Pak,2017

5. Chromosomal localization of the human alpha‐l‐iduronidase gene (IDUA) to 4p16.3;Scott HS;Am J Hum Genet,1990

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