Natural history, with clinical, biochemical, and molecular characterization of classical homocystinuria in the Qatari population-Reference-Cited by-同舟云学术

Natural history, with clinical, biochemical, and molecular characterization of classical homocystinuria in the Qatari population

Published:2019-05-08 Issue:5 Volume:42 Page:818-830
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Al‐Dewik Nader¹²^ORCID,Ali Alaa¹,Mahmoud Yassmin³,Shahbeck Noora¹,Ali Rehab¹,Mahmoud Laila¹,Al‐Mureikhi Mariam¹,Al‐Mesaifri Fatma¹,Musa Sara¹,El‐Akouri Karen¹,Almulla Mariam¹,Al Saadi Reem⁴,Nasrallah Gheyath K.⁵,Samara Muthanna⁶,Abdoh Ghassan⁷,Rifai Hilal Al⁷,Häberle Johannes⁸,Thöny Beat⁸,Kruger Warren⁹,Blom Henk J.¹⁰,Ben‐Omran Tawfeg¹¹¹¹²

Affiliation:

1. Clinical and Metabolic Genetics, Department of Pediatrics, Hamad General HospitalHamad Medical Corporation Doha Qatar

2. College of Health and Life SciencesHamad Bin Khalifa University (HBKU) Doha Qatar

3. Children Rehabilitation Out Patient Clinics, Rumaillah HospitalHamad Medical Corporation Doha Qatar

4. Department of Dietetics and NutritionHamad Medical Corporation Doha Qatar

5. Department of Biomedical Sciences, Biomedical Research Center, College of Health SciencesQU health, Qatar University Doha Qatar

6. Department of PsychologyKingston University London London UK

7. Department of Pediatrics and Neonatology, Newborn Screening UnitHamad Medical Corporation Doha Qatar

8. Division of MetabolismUniversity Children's Hospital and Children's Research Center Zurich Switzerland

9. Cancer Biology ProgramFox Chase Cancer Center Philadelphia Pennsylvania

10. Laboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics, Adolescent Medicine and NeonatologyUniversity Medical Centre Freiburg Freiburg Germany

11. Department of pediatricWeill Cornell Medical College Doha Qatar

12. Division of Genetic & Genomics MedicineSidra Medicine Doha Qatar

Funder

Qatar National Research Fund

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12099

Reference24 articles.

1. Homocystinuria: An Enzymatic Defect

2. The natural history of homocystinuria due to cystathionine beta‐synthase deficiency;Mudd SH;Am J Hum Genet,1985

3. Natural history, characterization and outcome of classical homocystinuria in the Qatari population. The 13th International Congress of Inborn Errors of Metabolism. R. Giugliani. Rio De Janeiro, Brazil;Al‐Dewik N;The Journal of Inborn Errors of Metabolism and Screening,2017

4. Molecular neonatal screening for homocystinuria in the Qatari population

5. A common mutation in theCBSgene explains a high incidence of homocystinuria in the Qatari population

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