Ben-Omran T - Search Results

1

In silico and in vivo models for Qatari-specific classical homocystinuria as basis for development of novel therapies.

Ismail HM, Krishnamoorthy N, Al-Dewik N, Zayed H, Mohamed NA, Giacomo VD, Gupta S, Häberle J, Thöny B, Blom HJ, Kruger WD, Ben-Omran T, Nasrallah GK. Ismail HM, et al. Hum Mutat. 2019 Feb;40(2):230-240. doi: 10.1002/humu.23682. Epub 2018 Nov 23. Hum Mutat. 2019. PMID: 30408270 Free PMC article.

2

Molecular neonatal screening for homocystinuria in the Qatari population.

Zschocke J, Kebbewar M, Gan-Schreier H, Fischer C, Fang-Hoffmann J, Wilrich J, Abdoh G, Ben-Omran T, Shahbek N, Lindner M, Al Rifai H, Al Khal AL, Hoffmann GF. Zschocke J, et al. Hum Mutat. 2009 Jun;30(6):1021-2. doi: 10.1002/humu.20994. Hum Mutat. 2009. PMID: 19370759

3

Natural course of glutamine synthetase deficiency in a 3 year old patient.

Häberle J, Shahbeck N, Ibrahim K, Hoffmann GF, Ben-Omran T. Häberle J, et al. Mol Genet Metab. 2011 May;103(1):89-91. doi: 10.1016/j.ymgme.2011.02.001. Epub 2011 Feb 4. Mol Genet Metab. 2011. PMID: 21353613

4

Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance.

Häberle J, Shahbeck N, Ibrahim K, Schmitt B, Scheer I, O'Gorman R, Chaudhry FA, Ben-Omran T. Häberle J, et al. Orphanet J Rare Dis. 2012 Jul 25;7:48. doi: 10.1186/1750-1172-7-48. Orphanet J Rare Dis. 2012. PMID: 22830360 Free PMC article.

5

Secondary NAD+ deficiency in the inherited defect of glutamine synthetase.

Hu L, Ibrahim K, Stucki M, Frapolli M, Shahbeck N, Chaudhry FA, Görg B, Häussinger D, Penberthy WT, Ben-Omran T, Häberle J. Hu L, et al. J Inherit Metab Dis. 2015 Nov;38(6):1075-83. doi: 10.1007/s10545-015-9846-4. Epub 2015 Apr 21. J Inherit Metab Dis. 2015. PMID: 25896882 Free article.

6

High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.

Yavarna T, Al-Dewik N, Al-Mureikhi M, Ali R, Al-Mesaifri F, Mahmoud L, Shahbeck N, Lakhani S, AlMulla M, Nawaz Z, Vitazka P, Alkuraya FS, Ben-Omran T. Yavarna T, et al. Hum Genet. 2015 Sep;134(9):967-80. doi: 10.1007/s00439-015-1575-0. Epub 2015 Jun 16. Hum Genet. 2015. PMID: 26077850

7

Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine β-synthase p.R336C.

Mendes MI, Smith DE, Vicente JB, Tavares De Almeida I, Ben-Omran T, Salomons GS, Rivera IA, Leandro P, Blom HJ. Mendes MI, et al. Hum Mol Genet. 2015 Dec 20;24(25):7339-48. doi: 10.1093/hmg/ddv431. Epub 2015 Oct 12. Hum Mol Genet. 2015. PMID: 26464485

8

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.

9

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.

Morris AA, Kožich V, Santra S, Andria G, Ben-Omran TI, Chakrapani AB, Crushell E, Henderson MJ, Hochuli M, Huemer M, Janssen MC, Maillot F, Mayne PD, McNulty J, Morrison TM, Ogier H, O'Sullivan S, Pavlíková M, de Almeida IT, Terry A, Yap S, Blom HJ, Chapman KA. Morris AA, et al. J Inherit Metab Dis. 2017 Jan;40(1):49-74. doi: 10.1007/s10545-016-9979-0. Epub 2016 Oct 24. J Inherit Metab Dis. 2017. PMID: 27778219 Free PMC article. Review.

10

Cysteamine revisited: repair of arginine to cysteine mutations.

Gallego-Villar L, Hannibal L, Häberle J, Thöny B, Ben-Omran T, Nasrallah GK, Dewik AN, Kruger WD, Blom HJ. Gallego-Villar L, et al. J Inherit Metab Dis. 2017 Jul;40(4):555-567. doi: 10.1007/s10545-017-0060-4. Epub 2017 Jun 22. J Inherit Metab Dis. 2017. PMID: 28643139 Free PMC article. Review.

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