5-Oxoprolinase deficiency: report of the first human OPLAH mutation.

Autor: Almaghlouth, IA, Mohamed, JY, Al-Amoudi, M, Al-Ahaidib, L, Al-Odaib, A, Alkuraya, FS

Publikováno v: Clinical Genetics; Aug2012, Vol. 82 Issue 2, p193-196, 4p, 2 Diagrams

The Prevalence of Phenylketonuria in Arab Countries, Turkey, and Iran: A Systematic Review.

Autor: El-Metwally A; King Abdullah International Medical Research Center (KAIMRC) and College of Public Health and Health Informatics, King Saud Bin AbdulAziz University for Health Sciences, Riyadh, Saudi Arabia.; Department of Epidemiology, School of Health Sciences, University of Tampere, Tampere, Finland., Yousef Al-Ahaidib L; Newborn Screening and Biochemical Genetics Lab, Research Center, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia., Ayman Sunqurah A; King Abdullah International Medical Research Center (KAIMRC) and College of Public Health and Health Informatics, King Saud Bin AbdulAziz University for Health Sciences, Riyadh, Saudi Arabia., Al-Surimi K; King Abdullah International Medical Research Center (KAIMRC) and College of Public Health and Health Informatics, King Saud Bin AbdulAziz University for Health Sciences, Riyadh, Saudi Arabia., Househ M; King Abdullah International Medical Research Center (KAIMRC) and College of Public Health and Health Informatics, King Saud Bin AbdulAziz University for Health Sciences, Riyadh, Saudi Arabia., Alshehri A; King Abdullah International Medical Research Center (KAIMRC) and College of Public Health and Health Informatics, King Saud Bin AbdulAziz University for Health Sciences, Riyadh, Saudi Arabia., Da'ar OB; King Abdullah International Medical Research Center (KAIMRC) and College of Public Health and Health Informatics, King Saud Bin AbdulAziz University for Health Sciences, Riyadh, Saudi Arabia., Abdul Razzak H; Ministry of Health and Prevention, Dubai, UAE., AlOdaib AN; Newborn Screening and Biochemical Genetics Lab, Research Center, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.; King Salman Center for Disability Research, Riyadh, Saudi Arabia.

Publikováno v: BioMed research international [Biomed Res Int] 2018 Apr 18; Vol. 2018, pp. 7697210. Date of Electronic Publication: 2018 Apr 18 (Print Publication: 2018).

Genotypic variants of the tetrahydrobiopterin (BH4) biosynthesis genes in patients with hyperphenylalaninemia from different regions of Iran.

Autor: Nezhad, Seyed Reza Kazemi¹ (AUTHOR), Aligoodarzi, Pegah Namdar¹ (AUTHOR), Rostami, Golale² (AUTHOR), Shariati, Gholamreza³ (AUTHOR), Galehdari, Hamid⁴ (AUTHOR), Saberi, Alihossein³ (AUTHOR), Sedaghat, Alireza⁵ (AUTHOR), Hamid, Mohammad² (AUTHOR) hamid143@yahoo.com

Publikováno v: Molecular Genetics & Genomic Medicine. Jan2024, Vol. 12 Issue 1, p1-10. 10p.

Endoplasmic Reticulum Protein TXNDC5 Interacts with PRDX6 and HSPA9 to Regulate Glutathione Metabolism and Lipid Peroxidation in the Hepatic AML12 Cell Line.

Autor: Bidooki, Seyed Hesamoddin^1,2,3 (AUTHOR) h.bidooki94@gmail.com, Sánchez-Marco, Javier¹ (AUTHOR) javiersanchezmarc@gmail.com, Martínez-Beamonte, Roberto^1,4,5 (AUTHOR) mjrodyol@unizar.es, Herrero-Continente, Tania¹ (AUTHOR) taniaherrero1992@gmail.com, Navarro, María A.^1,4,5 (AUTHOR) angelesn@unizar.es, Rodríguez-Yoldi, María J.^4,5,6 (AUTHOR), Osada, Jesús^1,4,5 (AUTHOR) josada@unizar.es

Publikováno v: International Journal of Molecular Sciences. Dec2023, Vol. 24 Issue 24, p17131. 20p.

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