Abu-Amero KK - Search Results

1

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis.

Al-Hassnan ZN, Rashed MS, Al-Dirbashi OY, Patay Z, Rahbeeni Z, Abu-Amero KK. Al-Hassnan ZN, et al. J Neurol Sci. 2008 Jan 15;264(1-2):187-94. doi: 10.1016/j.jns.2007.08.003. Epub 2007 Sep 7. J Neurol Sci. 2008. PMID: 17825324

2

Preimplantation genetic diagnosis in isolated sulfite oxidase deficiency.

Salih MA, Bosley TM, Alorainy IA, Sabry MA, Rashed MS, Al-Yamani EA, El-Akoum S, Mohamed SH, Abu-Amero KK, Hellani AM. Salih MA, et al. Can J Neurol Sci. 2013 Jan;40(1):109-12. doi: 10.1017/s0317167100013081. Can J Neurol Sci. 2013. PMID: 23250141 No abstract available.

3

Neurologic injury in isolated sulfite oxidase deficiency.

Bosley TM, Alorainy IA, Oystreck DT, Hellani AM, Seidahmed MZ, Osman Mel F, Sabry MA, Rashed MS, Al-Yamani EA, Abu-Amero KK, Salih MA. Bosley TM, et al. Can J Neurol Sci. 2014 Jan;41(1):42-8. doi: 10.1017/s0317167100016243. Can J Neurol Sci. 2014. PMID: 24384336

4

Eradicating primary congenital glaucoma from Saudi Arabia: The case for a national screening program.

Malik R, Khandekar R, Boodhna T, Rahbeeni Z, Al Towerki AE, Edward DP, Abu-Amero K. Malik R, et al. Saudi J Ophthalmol. 2017 Oct-Dec;31(4):247-249. doi: 10.1016/j.sjopt.2017.08.002. Epub 2017 Aug 10. Saudi J Ophthalmol. 2017. PMID: 29234227 Free PMC article. Review.

5

Five new consanguineous families with horizontal gaze palsy and progressive scoliosis and novel ROBO3 mutations.

Abu-Amero KK, al Dhalaan H, al Zayed Z, Hellani A, Bosley TM. Abu-Amero KK, et al. J Neurol Sci. 2009 Jan 15;276(1-2):22-6. doi: 10.1016/j.jns.2008.08.026. Epub 2008 Oct 1. J Neurol Sci. 2009. PMID: 18829051

6

Clinical characterization of the HOXA1 syndrome BSAS variant.

Bosley TM, Salih MA, Alorainy IA, Oystreck DT, Nester M, Abu-Amero KK, Tischfield MA, Engle EC. Bosley TM, et al. Neurology. 2007 Sep 18;69(12):1245-53. doi: 10.1212/01.wnl.0000276947.59704.cf. Neurology. 2007. PMID: 17875913 Free PMC article.

7

A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia.

Mohamed S, Hamad MH, Kondkar AA, Abu-Amero KK. Mohamed S, et al. Saudi Med J. 2015 Oct;36(10):1229-32. doi: 10.15537/smj.2015.10.12127. Saudi Med J. 2015. PMID: 26446336 Free PMC article.

8

Molecular and neurological characterizations of three Saudi families with lipoid proteinosis.

Salih MA, Abu-Amero KK, Alrasheed S, Alorainy IA, Liu L, McGrath JA, Van Maldergem L, Al-Faky YH, AlSuhaibani AH, Oystreck DT, Bosley TM. Salih MA, et al. BMC Med Genet. 2011 Feb 24;12:31. doi: 10.1186/1471-2350-12-31. BMC Med Genet. 2011. PMID: 21349189 Free PMC article.

9

Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3.

Bosley TM, Salih MA, Jen JC, Lin DD, Oystreck D, Abu-Amero KK, MacDonald DB, al Zayed Z, al Dhalaan H, Kansu T, Stigsby B, Baloh RW. Bosley TM, et al. Neurology. 2005 Apr 12;64(7):1196-203. doi: 10.1212/01.WNL.0000156349.01765.2B. Neurology. 2005. PMID: 15824346

10

A newly recognized autosomal recessive syndrome affecting neurologic function and vision.

Salih MA, Tzschach A, Oystreck DT, Hassan HH, AlDrees A, Elmalik SA, El Khashab HY, Wienker TF, Abu-Amero KK, Bosley TM. Salih MA, et al. Am J Med Genet A. 2013 Jun;161A(6):1207-13. doi: 10.1002/ajmg.a.35850. Epub 2013 Apr 30. Am J Med Genet A. 2013. PMID: 23633300

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