Abu-Libdeh B - Search Results

1

Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family.

Korman SH, Kanazawa N, Abu-Libdeh B, Gutman A, Tsujino S. Korman SH, et al. J Neurol Sci. 2004 Mar 15;218(1-2):53-8. doi: 10.1016/j.jns.2003.10.017. J Neurol Sci. 2004. PMID: 14759633

2

Aspartylglucosaminuria among Palestinian Arabs.

Zlotogora J, Ben-Neriah Z, Abu-Libdeh BY, Sury V, Zeigler M. Zlotogora J, et al. J Inherit Metab Dis. 1997 Nov;20(6):799-802. doi: 10.1023/a:1005371802085. J Inherit Metab Dis. 1997. PMID: 9427148

3

Genetic screening of familial Mediterranean fever mutations in the Palestinian population.

Ayesh SK, Nassar SM, Al-Sharef WA, Abu-Libdeh BY, Darwish HM. Ayesh SK, et al. Saudi Med J. 2005 May;26(5):732-7. Saudi Med J. 2005. PMID: 15951859

4

When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.

Bargal R, Zeigler M, Abu-Libdeh B, Zuri V, Mandel H, Ben Neriah Z, Stewart F, Elcioglu N, Hindi T, Le Merrer M, Bach G, Raas-Rothschild A. Bargal R, et al. Mol Genet Metab. 2006 Aug;88(4):359-63. doi: 10.1016/j.ymgme.2006.03.003. Epub 2006 Apr 21. Mol Genet Metab. 2006. PMID: 16630736

5

Molecular analysis of MEFV gene mutations among Palestinian patients with Behcet's disease.

Ayesh S, Abu-Rmaileh H, Nassar S, Al-Shareef W, Abu-Libdeh B, Muhanna A, Al-Kafri F. Ayesh S, et al. Scand J Rheumatol. 2008 Sep-Oct;37(5):370-4. doi: 10.1080/03009740801998788. Scand J Rheumatol. 2008. PMID: 18609258

6

Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.

Shahrour MA, Staretz-Chacham O, Dayan D, Stephen J, Weech A, Damseh N, Pri Chen H, Edvardson S, Mazaheri S, Saada A; NISC Intramural Sequencing; Hershkovitz E, Shaag A, Huizing M, Abu-Libdeh B, Gahl WA, Azem A, Anikster Y, Vilboux T, Elpeleg O, Malicdan MC. Shahrour MA, et al. Clin Genet. 2017 May;91(5):690-696. doi: 10.1111/cge.12855. Epub 2016 Oct 12. Clin Genet. 2017. PMID: 27573165 Free PMC article.

7

Clinical heterogeneity of glycine encephalopathy in three Palestinian siblings: A novel mutation in the glycine decarboxylase (GLDC) gene.

Khraim W, Abu-Libdeh B, Ayesh S, Dweikat I. Khraim W, et al. Brain Dev. 2017 Aug;39(7):601-605. doi: 10.1016/j.braindev.2017.03.005. Epub 2017 Mar 18. Brain Dev. 2017. PMID: 28325525

8

Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy.

Langer Y, Aran A, Gulsuner S, Abu Libdeh B, Renbaum P, Brunetti D, Teixeira PF, Walsh T, Zeligson S, Ruotolo R, Beeri R, Dweikat I, Shahrour M, Weinberg-Shukron A, Zahdeh F, Baruffini E, Glaser E, King MC, Levy-Lahad E, Zeviani M, Segel R. Langer Y, et al. J Med Genet. 2018 Sep;55(9):599-606. doi: 10.1136/jmedgenet-2018-105330. Epub 2018 May 15. J Med Genet. 2018. PMID: 29764912 Free article.

9

PNC2 (SLC25A36) Deficiency Associated With the Hyperinsulinism/Hyperammonemia Syndrome.

Shahroor MA, Lasorsa FM, Porcelli V, Dweikat I, Di Noia MA, Gur M, Agostino G, Shaag A, Rinaldi T, Gasparre G, Guerra F, Castegna A, Todisco S, Abu-Libdeh B, Elpeleg O, Palmieri L. Shahroor MA, et al. Among authors: abu libdeh b. J Clin Endocrinol Metab. 2022 Apr 19;107(5):1346-1356. doi: 10.1210/clinem/dgab932. J Clin Endocrinol Metab. 2022. PMID: 34971397

10

Replicative Stress Coincides with Impaired Nuclear DNA Damage Response in COX4-1 Deficiency.

Douiev L, Miller C, Keller G, Benyamini H, Abu-Libdeh B, Saada A. Douiev L, et al. Among authors: abu libdeh b. Int J Mol Sci. 2022 Apr 8;23(8):4149. doi: 10.3390/ijms23084149. Int J Mol Sci. 2022. PMID: 35456968 Free PMC article.

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