Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE‐diagnosis study (IMPRESsion)-Reference-Cited by-同舟云学术

Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE‐diagnosis study (IMPRESsion)

Published:2022-02-03 Issue:4 Volume:43 Page:
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Ghaffari Saeed R.¹²³^ORCID,Rafati Maryam¹²^ORCID,Shadnoush Mahdi⁴,Pourbabaee Shokooh⁵,Aghighi Mohammad⁶,Mirab Samiee Siamak⁷⁸,Kermanchi Jamshid⁶,Alaei Mohammad R.⁹,Salehpour Shadab⁹,Amirkashani Davoud¹⁰,Setoodeh Aria¹¹,Sarkhail Peymaneh¹²,Badv Reza Shervin¹³,Aminzadeh Majid¹⁴,Shiva Siamak¹⁵,Eshraghi Peyman¹⁶,Moravej Hossein¹⁷,Hashemipour Mahin¹⁸,Rostampour Noushin¹⁹,Hamidieh َAmir Ali²⁰,Shamsian Bibi Shahin²¹,Shams Sedigheh²²,Zamanfar Daniel²³,Ebrahimi Ayoub¹⁵,Otadi Ali²⁴,Tara Seyedeh Zahra²⁵,Barati Zeinab¹²,Fakhri Laya¹²,Hoseini Azadeh²,Amiri Hosna²,Ramandi Somayeh²,Mostofinezhad Niusha²,Kani Zahra Pahlevani²⁶,Mohammadyari Elham²⁶,Khosravi Mahsa²⁶,Saadati Masoome²⁷,Hoseininasab Fatemeh²,Khorram Khorshid Hamid Reza¹,Modaberisaber Younes¹

Affiliation:

1. Department of Genomics Fetal Health Research Center, Hope Generation Foundation Tehran Iran

2. Department of Reproductive genetics, Reproductive Biotechnology Research Center Avicenna Research Institute, ACECR Tehran Iran

3. Department of Genomics Gene Clinic Tehran Iran

4. Department of Clinical Nutrition, Faculty of Nutrition & Food Technology Shahid Beheshti University of Medical Sciences Tehran Iran

5. Deputy of Curative Affairs Ministry of Health and Medical Education Tehran Iran

6. Transplantation and Diseases Administration, Deputy of Curative Affairs Ministry of Health and Medical Education Tehran Iran

7. Food and Drug Laboratory Research Center Ministry of Health and Medical Education Tehran Iran

8. General Reference Health Laboratory Ministry of Health and Medical Education Tehran Iran

9. Department of Pediatrics Shahid Beheshti University of Medical Sciences Tehran Iran

10. Division of Endocrinology and Metabolism, Ali‐Asghar Children's Hospital Iran University of Medical Sciences Tehran Iran

11. Children's Medical Center, Growth and Development Research Center Tehran University of Medical Sciences Tehran Iran

12. Personalized Medicine and Genometabolomics Research Center Hope Generation Foundation Tehran Iran

13. Department of Pediatrics, Children's Medical Center, Pediatrics Center of Excellence Tehran University of Medical Sciences Tehran Iran

14. Diabetes Research Center Ahvaz Jundishapur University of Medical Sciences Ahvaz Khuzestan Iran

15. Pediatric Health Research Center Tabriz University of Medical Sciences Tabriz East Azerbaijan Iran

16. Department of Pediatrics Mashhad University of Medical Sciences Mashhad Khorasan Razavi Iran

17. Neonatal Research Center Shiraz University of Medical Science Shiraz Fars Iran

18. Metabolic Liver Disease Research Center Isfahan University of Medical Sciences Isfahan Isfahan Iran

19. Isfahan Endocrine and Metabolism Research Center Isfahan University of Medical Sciences Isfahan Isfahan Isfahan Iran

20. Pediatric Cell and Gene Therapy Research Center Tehran University of Medical Sciences Tehran Iran

21. Pediatric Congenital Hematologic Disorders Research Center Shahid Beheshti University of Medical Sciences Tehran Iran

22. Department of Pathology, Children's Medical Center, Pediatrics Center of Excellence Tehran University of Medical Sciences Tehran Iran

23. Diabetes Research Center Mazandaran University of Medical Sciences Sari Iran

24. The University of British Columbia Faculty of Science Vancouver British Columbia Canada

25. Pediatric Endocrinology Department The Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

26. Islamic Azad University Tehran Medical Sciences Tehran Tehran Iran

27. Islamic Azad University Tehran North Branch Tehran Tehran Iran

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24328

Reference56 articles.

1. Another novel missense mutation in ARSB gene in Iran;Abbasi S.;Acta Medica Iranica,2017

2. A map of human genome variation from population-scale sequencing

3. Once in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type IIIB in a Patient

4. Mucopolysaccharidosis type I: characterization of a common mutation that causes Hurler syndrome in Moroccan subjects

5. Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates

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