Alodaib A - Search Results

1

Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease.

Alodaib A, Sobreira N, Gold WA, Riley LG, Van Bergen NJ, Wilson MJ, Bennetts B, Thorburn DR, Boehm C, Christodoulou J. Alodaib A, et al. Eur J Hum Genet. 2017 Jan;25(1):79-84. doi: 10.1038/ejhg.2016.128. Epub 2016 Oct 19. Eur J Hum Genet. 2017. PMID: 27759031 Free PMC article.

2

Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders.

Zhang J, Barbaro P, Guo Y, Alodaib A, Li J, Gold W, Adès L, Keating BJ, Xu X, Teo J, Hakonarson H, Christodoulou J. Zhang J, et al. Among authors: alodaib a. Clin Genet. 2016 Feb;89(2):163-72. doi: 10.1111/cge.12573. Epub 2015 Mar 22. Clin Genet. 2016. PMID: 25703294

3

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, Sugano K, Yonezawa A, Manzur AY, Burns J, Hughes I, McCullagh BG, Jungbluth H, Lim MJ, Lin JP, Megarbane A, Urtizberea JA, Shah AH, Antony J, Webster R, Broomfield A, Ng J, Mathew AA, O'Byrne JJ, Forman E, Scoto M, Prasad M, O'Brien K, Olpin S, Oppenheim M, Hargreaves I, Land JM, Wang MX, Carpenter K, Horvath R, Straub V, Lek M, Gold W, Farrell MO, Brandner S, Phadke R, Matsubara K, McGarvey ML, Scherer SS, Baxter PS, King MD, Clayton P, Rahman S, Reilly MM, Ouvrier RA, Christodoulou J, Züchner S, Muntoni F, Houlden H. Foley AR, et al. Brain. 2014 Jan;137(Pt 1):44-56. doi: 10.1093/brain/awt315. Epub 2013 Nov 19. Brain. 2014. PMID: 24253200 Free PMC article.

4

Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.

Guo Y, Kartawinata M, Li J, Pickett HA, Teo J, Kilo T, Barbaro PM, Keating B, Chen Y, Tian L, Al-Odaib A, Reddel RR, Christodoulou J, Xu X, Hakonarson H, Bryan TM. Guo Y, et al. Blood. 2014 Oct 30;124(18):2767-74. doi: 10.1182/blood-2014-08-596445. Epub 2014 Sep 9. Blood. 2014. PMID: 25205116 Free PMC article.

5

Homocysteine measurement in dried blood spot for neonatal detection of homocystinurias.

Alodaib AN, Carpenter K, Wiley V, Wotton T, Christodoulou J, Wilcken B. Alodaib AN, et al. JIMD Rep. 2012;5:1-6. doi: 10.1007/8904_2011_109. Epub 2011 Dec 13. JIMD Rep. 2012. PMID: 23430909 Free PMC article.

6

An improved ultra performance liquid chromatography-tandem mass spectrometry method for the determination of alloisoleucine and branched chain amino acids in dried blood samples.

Alodaib A, Carpenter K, Wiley V, Sim K, Christodoulou J, Wilcken B. Alodaib A, et al. Ann Clin Biochem. 2011 Sep;48(Pt 5):468-70. doi: 10.1258/acb.2011.010283. Epub 2011 Jul 20. Ann Clin Biochem. 2011. PMID: 21775576

7

Physiological Perspectives on the Use of Triheptanoin as Anaplerotic Therapy for Long Chain Fatty Acid Oxidation Disorders.

Sklirou E, Alodaib AN, Dobrowolski SF, Mohsen AA, Vockley J. Sklirou E, et al. Among authors: alodaib an. Front Genet. 2021 Jan 15;11:598760. doi: 10.3389/fgene.2020.598760. eCollection 2020. Front Genet. 2021. PMID: 33584796 Free PMC article.

8

Clinical, biochemical, mitochondrial, and metabolomic aspects of methylmalonate semialdehyde dehydrogenase deficiency: Report of a fifth case.

Dobrowolski SF, Alodaib A, Karunanidhi A, Basu S, Holecko M, Lichter-Konecki U, Pappan KL, Vockley J. Dobrowolski SF, et al. Among authors: alodaib a. Mol Genet Metab. 2020 Apr;129(4):272-277. doi: 10.1016/j.ymgme.2020.01.005. Epub 2020 Jan 11. Mol Genet Metab. 2020. PMID: 32151545

9

Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis.

D'Annibale OM, Koppes EA, Alodaib AN, Kochersperger C, Karunanidhi A, Mohsen AW, Vockley J. D'Annibale OM, et al. Among authors: alodaib an. Mol Genet Metab. 2021 Sep-Oct;134(1-2):29-36. doi: 10.1016/j.ymgme.2021.08.012. Epub 2021 Aug 30. Mol Genet Metab. 2021. PMID: 34535384 Free PMC article.

10

Clinical and biochemical features of fatty acid oxidation disorders.

Rinaldo P, Raymond K, al-Odaib A, Bennett MJ. Rinaldo P, et al. Curr Opin Pediatr. 1998 Dec;10(6):615-21. doi: 10.1097/00008480-199810060-00014. Curr Opin Pediatr. 1998. PMID: 9848022 Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

49 results

Search Page