Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population-Reference-Cited by-同舟云学术

Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population

Published:2018-08-29 Issue:6 Volume:41 Page:1159-1167
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Shirzadeh Tina¹,Saeidian Amir Hossein²³^ORCID,Bagherian Hamideh¹,Salehpour Shadab⁴⁵,Setoodeh Aria⁶⁷,Alaei Mohammad Reza⁴,Youssefian Leila²³⁸^ORCID,Samavat Ashraf⁹,Touati Andrew¹⁰,Fallah Mohammad-Sadegh¹,Vahidnezhad Hassan²¹¹^ORCID,Karimipoor Morteza¹¹,Azadmehr Sarah¹,Raeisi Marzieh¹²¹³,Bandehi Sarhadi Ameneh¹,Zafarghandi Motlagh Fatemeh¹,Jamali Mojdeh¹,Zeinali Zahra¹,Abiri Maryam¹⁴^ORCID,Zeinali Sirous¹¹⁵^ORCID,

Affiliation:

1. Kawsar Human Genetics Research Center; 41 Majlesi St., Vali Asr St. Tehran 1595645513 Iran

2. ; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College; Thomas Jefferson University; Philadelphia PA USA

3. ; Genetic, Genomics and Cancer Biology PhD Program; Thomas Jefferson University; Philadelphia PA USA

4. ; Department of Pediatric Endocrinology and Metabolism, Mofid Children's Hospital; Shahid Beheshti University of Medical Sciences; Tehran Iran

5. ; Genomic Research Center; Shahid Beheshti University of Medical Sciences; Tehran Iran

6. ; Growth and Development Research Center; Tehran University of Medical Sciences; Tehran Iran

7. ; Department of Pediatrics; Tehran University of Medical Sciences; Tehran Iran

8. ; Department of Medical Genetics, School of Medicine; Tehran University of Medical Sciences; Tehran Iran

9. Genetics Office, CDC; Ministry of Health of Iran; Tehran Iran

10. ; Drexel University College of Medicine; Philadelphia PA USA

11. ; Department of Molecular Medicine, Biotechnology Research Center; Pasteur Institute of Iran; Tehran Iran

12. ; Research Institute for Endocrine Science; Shahid Beheshti University of Medical Sciences; Tehran Iran

13. ; Department of cellular and molecular biology; Islamic Azad University North Tehran branch; Tehran Iran

14. ; Department of Medical Genetics, School of Medicine; Iran University of Medical Sciences; Tehran Iran

15. ; Department of Molecular Medicine, Biotech Research Center; Pasteur Institute of Iran; Tehran Iran

Funder

KHGRC

Kawsar Human Genetics Research Center in Tehran, Iran

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/article/10.1007/s10545-018-0228-6/fulltext.html

Reference39 articles.

1. Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity;Abiri;J Pediat Endocrinol Metab,2016

2. A preliminary mutation analysis of phenylketonuria in Southwest Iran;Ajami;Genet Mol Res,2013

3. Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients;Amara;Eur J Paediat Neurol,2012

4. Ashraf-Samavat FV 2016 Reporting the outcome of national screening and control of phenylketonuria in Iran

5. Mutational spectrum in German patients with phenylalanine hydroxylase deficiency;Aulehla-Scholz;Hum Mutat,2003

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