Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

240 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Drug treatment of inborn errors of metabolism: a systematic review.
Alfadhel M, Al-Thihli K, Moubayed H, Eyaid W, Al-Jeraisy M. Alfadhel M, et al. Arch Dis Child. 2013 Jun;98(6):454-61. doi: 10.1136/archdischild-2012-303131. Epub 2013 Mar 26. Arch Dis Child. 2013. PMID: 23532493 Free PMC article. Review.
Guidelines for acute management of hyperammonemia in the Middle East region.
Alfadhel M, Mutairi FA, Makhseed N, Jasmi FA, Al-Thihli K, Al-Jishi E, AlSayed M, Al-Hassnan ZN, Al-Murshedi F, Häberle J, Ben-Omran T. Alfadhel M, et al. Ther Clin Risk Manag. 2016 Mar 31;12:479-87. doi: 10.2147/TCRM.S93144. eCollection 2016. Ther Clin Risk Manag. 2016. PMID: 27099506 Free PMC article.
Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders.
Alfadhel M, Al Othaim A, Al Saif S, Al Mutairi F, Alsayed M, Rahbeeni Z, Alzaidan H, Alowain M, Al-Hassnan Z, Saeedi M, Aljohery S, Alasmari A, Faqeih E, Alwakeel M, AlMashary M, Almohameed S, Alzahrani M, Migdad A, Al-Dirbashi OY, Rashed M, Alamoudi M, Jacob M, Alahaidib L, El-Badaoui F, Saadallah A, Alsulaiman A, Eyaid W, Al-Odaib A. Alfadhel M, et al. J Paediatr Child Health. 2017 Jun;53(6):585-591. doi: 10.1111/jpc.13469. Epub 2017 Mar 24. J Paediatr Child Health. 2017. PMID: 28337809
Molecular and clinical spectra of FBXL4 deficiency.
El-Hattab AW, Dai H, Almannai M, Wang J, Faqeih EA, Al Asmari A, Saleh MAM, Elamin MAO, Alfadhel M, Alkuraya FS, Hashem M, Aldosary MS, Almass R, Almutairi FB, Alsagob M, Al-Owain M, Al-Sharfa S, Al-Hassnan ZN, Rahbeeni Z, Al-Muhaizea MA, Makhseed N, Foskett GK, Stevenson DA, Gomez-Ospina N, Lee C, Boles RG, Schrier Vergano SA, Wortmann SB, Sperl W, Opladen T, Hoffmann GF, Hempel M, Prokisch H, Alhaddad B, Mayr JA, Chan W, Kaya N, Wong LC. El-Hattab AW, et al. Among authors: alfadhel m. Hum Mutat. 2017 Dec;38(12):1649-1659. doi: 10.1002/humu.23341. Epub 2017 Oct 6. Hum Mutat. 2017. PMID: 28940506 Review.
Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients.
Al Mutairi F, Alfadhel M, Nashabat M, El-Hattab AW, Ben-Omran T, Hertecant J, Eyaid W, Ali R, Alasmari A, Kara M, Al-Twaijri W, Filimban R, Alshenqiti A, Al-Owain M, Faqeih E, Alkuraya FS. Al Mutairi F, et al. Among authors: alfadhel m. Pediatr Neurol. 2018 Jan;78:35-40. doi: 10.1016/j.pediatrneurol.2017.09.002. Epub 2017 Oct 5. Pediatr Neurol. 2018. PMID: 29239743
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.
El-Hattab AW, Wang J, Dai H, Almannai M, Staufner C, Alfadhel M, Gambello MJ, Prasun P, Raza S, Lyons HJ, Afqi M, Saleh MAM, Faqeih EA, Alzaidan HI, Alshenqiti A, Flore LA, Hertecant J, Sacharow S, Barbouth DS, Murayama K, Shah AA, Lin HC, Wong LC. El-Hattab AW, et al. Among authors: alfadhel m. Hum Mutat. 2018 Apr;39(4):461-470. doi: 10.1002/humu.23387. Epub 2018 Jan 13. Hum Mutat. 2018. PMID: 29282788 Free article.
Expanding the clinical and genetic spectra of NKX6-2-related disorder.
Baldi C, Bertoli-Avella AM, Al-Sannaa N, Alfadhel M, Al-Thihli K, Alameer S, Elmonairy AA, Al Shamsi AM, Abdelrahman HA, Al-Gazali L, Shawli A, Al-Hakami F, Yavuz H, Kandaswamy KK, Rolfs A, Brandau O, Bauer P. Baldi C, et al. Among authors: alfadhel m. Clin Genet. 2018 May;93(5):1087-1092. doi: 10.1111/cge.13221. Clin Genet. 2018. PMID: 29388673
6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects.
Almannai M, Felemban R, Saleh MA, Faqeih EA, Alasmari A, AlHashem A, Mohamed S, Sunbul R, Al-Murshedi F, AlThihli K, Eyaid W, Ali R, Ben-Omran T, Blau N, El-Hattab AW, Alfadhel M. Almannai M, et al. Among authors: alfadhel m. Pediatr Neurol. 2019 Jul;96:40-47. doi: 10.1016/j.pediatrneurol.2019.02.008. Epub 2019 Feb 18. Pediatr Neurol. 2019. PMID: 30926181 Free article. Review.
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.
Bertoli-Avella AM, Beetz C, Ameziane N, Rocha ME, Guatibonza P, Pereira C, Calvo M, Herrera-Ordonez N, Segura-Castel M, Diego-Alvarez D, Zawada M, Kandaswamy KK, Werber M, Paknia O, Zielske S, Ugrinovski D, Warnack G, Kampe K, Iurașcu MI, Cozma C, Vogel F, Alhashem A, Hertecant J, Al-Shamsi AM, Alswaid AF, Eyaid W, Al Mutairi F, Alfares A, Albalwi MA, Alfadhel M, Al-Sannaa NA, Reardon W, Alanay Y, Rolfs A, Bauer P. Bertoli-Avella AM, et al. Among authors: alfadhel m. Eur J Hum Genet. 2021 Jan;29(1):141-153. doi: 10.1038/s41431-020-00713-9. Epub 2020 Aug 28. Eur J Hum Genet. 2021. PMID: 32860008 Free PMC article.
240 results