Al-Jishi E - Search Results

1

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.

Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S, Robinson AJ, Wong LJ, Sondheimer N, Salih MA, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, Lamperti C, Mayr JA, Konstantopoulou V, Huemer M, Pierce EA, Meitinger T, Freisinger P, Sperl W, Prokisch H, Alkuraya FS, Falk MJ, Zeviani M. Gai X, et al. Among authors: al jishi e. Am J Hum Genet. 2013 Sep 5;93(3):482-95. doi: 10.1016/j.ajhg.2013.07.016. Epub 2013 Aug 29. Am J Hum Genet. 2013. PMID: 23993194 Free PMC article.

2

Selective newborn screening of inborn errors of amino acids, organic acids and fatty acids metabolism in the Kingdom of Bahrain.

Golbahar J, Al-Jishi EA, Altayab DD, Carreon E, Bakhiet M, Alkhayyat H. Golbahar J, et al. Among authors: al jishi ea. Mol Genet Metab. 2013 Sep-Oct;110(1-2):98-101. doi: 10.1016/j.ymgme.2013.07.006. Epub 2013 Jul 16. Mol Genet Metab. 2013. PMID: 23916421

3

Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency.

Al-Jishi E, Meyer BF, Rashed MS, Al-Essa M, Al-Hamed MH, Sakati N, Sanjad S, Ozand PT, Kambouris M. Al-Jishi E, et al. Clin Genet. 1999 Jun;55(6):444-9. doi: 10.1034/j.1399-0004.1999.550608.x. Clin Genet. 1999. PMID: 10450861

4

Infectious complications of propionic acidemia in Saudia Arabia.

Al Essa M, Rahbeeni Z, Jumaah S, Joshi S, Al Jishi E, Rashed MS, Al Amoudi M, Ozand PT. Al Essa M, et al. Clin Genet. 1998 Jul;54(1):90-4. doi: 10.1111/j.1399-0004.1998.tb03702.x. Clin Genet. 1998. PMID: 9727749

5

Clinical, fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography of the brain, MR spectroscopy, and therapeutic attempts in methylenetetrahydrofolate reductase deficiency.

Al-Essa MA, Al Amir A, Rashed M, Al Jishi E, Abutaleb A, Mobaireek K, Shin YS, Ozand PT. Al-Essa MA, et al. Among authors: al jishi e. Brain Dev. 1999 Jul;21(5):345-9. doi: 10.1016/s0387-7604(99)00031-5. Brain Dev. 1999. PMID: 10413024

6

Biotin-responsive basal ganglia disease: a novel entity.

Ozand PT, Gascon GG, Al Essa M, Joshi S, Al Jishi E, Bakheet S, Al Watban J, Al-Kawi MZ, Dabbagh O. Ozand PT, et al. Brain. 1998 Jul;121 ( Pt 7):1267-79. doi: 10.1093/brain/121.7.1267. Brain. 1998. PMID: 9679779

7

Chiral liquid chromatography tandem mass spectrometry in the determination of the configuration of glyceric acid in urine of patients with D-glyceric and L-glyceric acidurias.

Rashed MS, Aboul-Enein HY, AlAmoudi M, Jakob M, Al-Ahaideb LY, Abbad A, Shabib S, Al-Jishi E. Rashed MS, et al. Among authors: al jishi e. Biomed Chromatogr. 2002 May;16(3):191-8. doi: 10.1002/bmc.126. Biomed Chromatogr. 2002. PMID: 11920944

8

The Middle-East connection of Wolman Disease.

Shome DK, Al-Jishi E, Greally JF, Malik N, Zainaldeen HA, Das NS. Shome DK, et al. Among authors: al jishi e. Saudi Med J. 2002 May;23(5):597-601. Saudi Med J. 2002. PMID: 12070591

9

Inborn error of vitamin B12 metabolism: a treatable cause of childhood dementia/paralysis.

Al Essa M, Sakati NA, Dabbagh O, Joshi S, Al Jishi EA, Rashed MS, Powe JE, Ozand PT. Al Essa M, et al. J Child Neurol. 1998 May;13(5):239-43. doi: 10.1177/088307389801300510. J Child Neurol. 1998. PMID: 9620017 No abstract available.

10

Barth syndrome: an X-linked cardiomyopathy with a novel mutation.

Aljishi E, Ali F. Aljishi E, et al. Indian J Pediatr. 2010 Dec;77(12):1432-3. doi: 10.1007/s12098-010-0222-y. Epub 2010 Oct 28. Indian J Pediatr. 2010. PMID: 20981509

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