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Mutation spectrum of glycogen storage disease type Ia in Tunisia: implication for molecular diagnosis.
J Inherit Metab Dis. 2007 Nov;30(6):989. doi: 10.1007/s10545-007-0737-1. Epub 2007 Nov 19.
J Inherit Metab Dis. 2007.
PMID: 18008183
Experience of a Single Center in NTBC Use in Management of Hereditary Tyrosinemia Type I in Libya.
Alobaidy H, Barkaoui E.
Alobaidy H, et al. Among authors: barkaoui e.
Iran J Pediatr. 2015 Oct;25(5):e3608. doi: 10.5812/ijp.3608. Epub 2015 Oct 6.
Iran J Pediatr. 2015.
PMID: 26495099
Free PMC article.
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[Favorable outcome of treatment with NTBC of acute liver insufficiency disclosing hereditary tyrosinemia type I].
Barkaoui E, Debray D, Habès D, Ogier H, Bernard O.
Barkaoui E, et al.
Arch Pediatr. 1999 May;6(5):540-4. doi: 10.1016/s0929-693x(99)80562-4.
Arch Pediatr. 1999.
PMID: 10370811
French.
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[Leigh syndrome and leukodystrophy due to partial succinate dehydrogenase deficiency: regression with riboflavin].
Pinard JM, Marsac C, Barkaoui E, Desguerre I, Birch-Machin M, Reinert P, Ponsot G.
Pinard JM, et al. Among authors: barkaoui e.
Arch Pediatr. 1999 Apr;6(4):421-6. doi: 10.1016/s0929-693x(99)80224-3.
Arch Pediatr. 1999.
PMID: 10230482
French.
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∆4-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid.
Gardin A, Ruiz M, Beime J, Cananzi M, Rathert M, Rohmer B, Grabhorn E, Almes M, Logarajah V, Peña-Quintana L, Casswall T, Darmellah-Remil A, Reyes-Domínguez A, Barkaoui E, Hierro L, Baquero-Montoya C, Baumann U, Fischler B, Gonzales E, Davit-Spraul A, Laplanche S, Jacquemin E.
Gardin A, et al. Among authors: barkaoui e.
Orphanet J Rare Dis. 2023 Dec 7;18(1):383. doi: 10.1186/s13023-023-02984-z.
Orphanet J Rare Dis. 2023.
PMID: 38062451
Free PMC article.
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Novel mutations in Uridyl-diphosphate-glucuronosyl-transferase 1A1 (UGT1A1) gene in Tunisian patients with unconjugated hyperbilirubinemia.
Trabelsi N, Chaouch L, Haddad F, Jaouani M, Barkaoui E, Darragi I, Chaouachi D, Boudrigua I, Menif S, Abbes S.
Trabelsi N, et al. Among authors: barkaoui e.
Eur J Med Genet. 2021 Feb;64(2):104139. doi: 10.1016/j.ejmg.2021.104139. Epub 2021 Jan 7.
Eur J Med Genet. 2021.
PMID: 33421605
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