Touma E - Search Results

1

Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: T2-deficient patients with "mild" mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA.

Zhang GX, Fukao T, Rolland MO, Zabot MT, Renom G, Touma E, Kondo M, Matsuo N, Kondo N. Zhang GX, et al. Among authors: touma e. Pediatr Res. 2004 Jul;56(1):60-4. doi: 10.1203/01.PDR.0000129657.48122.52. Epub 2004 May 5. Pediatr Res. 2004. PMID: 15128923

2

Unusual presentation of Kearns-Sayre syndrome in early childhood.

Simaan EM, Mikati MA, Touma EH, Rötig A. Simaan EM, et al. Among authors: touma eh. Pediatr Neurol. 1999 Nov;21(5):830-1. doi: 10.1016/s0887-8994(99)00084-3. Pediatr Neurol. 1999. PMID: 10593676

3

A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency.

Touma EH, Rashed MS, Vianey-Saban C, Sakr A, Divry P, Gregersen N, Andresen BS. Touma EH, et al. Arch Dis Child. 2001 Jan;84(1):58-60. doi: 10.1136/adc.84.1.58. Arch Dis Child. 2001. PMID: 11124787 Free PMC article.

4

Medium chain acyl-CoA dehydrogenase deficiency.

Touma EH, Charpentier C. Touma EH, et al. Arch Dis Child. 1992 Jan;67(1):142-5. doi: 10.1136/adc.67.1.142. Arch Dis Child. 1992. PMID: 1739332 Free PMC article. Review.

5

Holocarboxylase synthetase deficiency: report of a case with onset in late infancy.

Touma E, Suormala T, Baumgartner ER, Gerbaka B, Ogier de Baulny H, Loiselet J. Touma E, et al. J Inherit Metab Dis. 1999 Apr;22(2):115-22. doi: 10.1023/a:1005485500096. J Inherit Metab Dis. 1999. PMID: 10234606

6

Molecular characterization of G6PD deficiency in Cyprus.

Drousiotou A, Touma EH, Andreou N, Loiselet J, Angastiniotis M, Verrelli BC, Tishkoff SA. Drousiotou A, et al. Blood Cells Mol Dis. 2004 Jul-Aug;33(1):25-30. doi: 10.1016/j.bcmd.2004.03.004. Blood Cells Mol Dis. 2004. PMID: 15223006

7

Haplotype diversity and linkage disequilibrium at human G6PD: recent origin of alleles that confer malarial resistance.

Tishkoff SA, Varkonyi R, Cahinhinan N, Abbes S, Argyropoulos G, Destro-Bisol G, Drousiotou A, Dangerfield B, Lefranc G, Loiselet J, Piro A, Stoneking M, Tagarelli A, Tagarelli G, Touma EH, Williams SM, Clark AG. Tishkoff SA, et al. Among authors: touma eh. Science. 2001 Jul 20;293(5529):455-62. doi: 10.1126/science.1061573. Epub 2001 Jun 21. Science. 2001. PMID: 11423617

8

Development and acceptability of a culturally competent skills and knowledge assessment tool for patients with diabetes mellitus.

Hakimian S, Karam S, Pardilla K, Coyne K, Touma EK, Larsen D, Holl JL, Wallia A. Hakimian S, et al. Among authors: touma ek. J Clin Transl Endocrinol. 2024 Apr 25;36:100346. doi: 10.1016/j.jcte.2024.100346. eCollection 2024 Jun. J Clin Transl Endocrinol. 2024. PMID: 38706464 Free PMC article.

9

The use of splenic embolization in immune thrombocytopenia: A systematic review and meta-analysis.

Egbaria A, Touma E, Cohen-Abadi M, Bisharat N. Egbaria A, et al. Among authors: touma e. Br J Haematol. 2024 May;204(5):1966-1976. doi: 10.1111/bjh.19418. Epub 2024 Mar 28. Br J Haematol. 2024. PMID: 38544461

10

No evidence of increased incidence of ANCA-associated vasculitis following the COVID-19 pandemic: a single center experience.

Touma E, Bisharat N. Touma E, et al. Rheumatology (Oxford). 2024 Mar 4:keae115. doi: 10.1093/rheumatology/keae115. Online ahead of print. Rheumatology (Oxford). 2024. PMID: 38439534 No abstract available.

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