Ben-Omran T - Search Results

1

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.

2

Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study.

Crawford TO, Swoboda KJ, De Vivo DC, Bertini E, Hwu WL, Finkel RS, Kirschner J, Kuntz NL, Nazario AN, Parsons JA, Pechmann A, Ryan MM, Butterfield RJ, Topaloglu H, Ben-Omran T, Sansone VA, Jong YJ, Shu F, Zhu C, Raynaud S, Lago TR, Paradis AD, Foster R, Chin R, Berger Z; NURTURE Study Group. Crawford TO, et al. Among authors: ben omran t. Muscle Nerve. 2023 Aug;68(2):157-170. doi: 10.1002/mus.27853. Epub 2023 Jul 6. Muscle Nerve. 2023. PMID: 37409780

3

Correction to: Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review.

Abukhaled M, Al Muqbil M, Alghamdi MA, Hundallah K, Suleiman J, Ben-Omran T, Alfadhel M, Almannai M, Alsaleh R, Tabarki B. Abukhaled M, et al. Eur J Pediatr. 2023 Jun;182(6):2547-2548. doi: 10.1007/s00431-023-05012-1. Eur J Pediatr. 2023. PMID: 37140704 Free PMC article. No abstract available.

4

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

5

Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family.

Opladen T, Ebinger F, Zschocke J, Sengupta D, Ben-Omran T, Shahbeck N, Moog U, Fischer C, Bürger F, Haas D, Ruef P, Harting I, Al-Rifai H, Hoffmann GF. Opladen T, et al. J Child Neurol. 2014 Jan;29(1):36-42. doi: 10.1177/0883073812469049. Epub 2012 Dec 26. J Child Neurol. 2014. PMID: 23271757

6

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.

7

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.

8

Newborn screening for remethylation disorders and vitamin B₁₂ deficiency-evaluation of new strategies in cohorts from Qatar and Germany.

Gramer G, Abdoh G, Ben-Omran T, Shahbeck N, Ali R, Mahmoud L, Fang-Hoffmann J, Hoffmann GF, Al Rifai H, Okun JG. Gramer G, et al. World J Pediatr. 2017 Apr;13(2):136-143. doi: 10.1007/s12519-017-0003-z. Epub 2017 Jan 15. World J Pediatr. 2017. PMID: 28101774

9

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.

10

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.

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