Fateen E - Search Results

1

Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational Spectrum.

Amr K, Fateen E, Mansour L, Tosson AM, Zaki MS, Salam GMA, Mohamed AN, El-Bassyouni HT. Amr K, et al. Among authors: fateen e. J Mol Neurosci. 2021 May;71(5):1112-1130. doi: 10.1007/s12031-020-01734-1. Epub 2020 Nov 13. J Mol Neurosci. 2021. PMID: 33185815

2

Mutational Analysis of the alpha-L-iduronidase gene in three Egyptian families: identification of three novel mutations and five novel polymorphisms.

Amr K, Katoury A, Abdel-Hamid M, Bassiouni R, Ibrahim M, Fateen E. Amr K, et al. Among authors: fateen e. Genet Test Mol Biomarkers. 2009 Dec;13(6):761-4. doi: 10.1089/gtmb.2009.0057. Genet Test Mol Biomarkers. 2009. PMID: 19839758

3

A report of three patients with MMP2 associated hereditary osteolysis.

Temtamy SA, Ismail S, Aglan MS, Ashour AM, Hosny LA, El-Badry TH, Aboul-Ezz EH, Amr K, Fateen E, Maguire T, Ungerer K, Zankl A. Temtamy SA, et al. Among authors: fateen e. Genet Couns. 2012;23(2):175-84. Genet Couns. 2012. PMID: 22876575

4

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.

Zaki MS, Heller R, Thoenes M, Nürnberg G, Stern-Schneider G, Nürnberg P, Karnati S, Swan D, Fateen E, Nagel-Wolfrum K, Mostafa MI, Thiele H, Wolfrum U, Baumgart-Vogt E, Bolz HJ. Zaki MS, et al. Among authors: fateen e. Hum Mutat. 2016 Feb;37(2):170-4. doi: 10.1002/humu.22934. Epub 2015 Dec 14. Hum Mutat. 2016. PMID: 26593283

5

Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum.

Ibrahim DMA, Ali OSM, Nasr H, Fateen E, AbdelAleem A. Ibrahim DMA, et al. Among authors: fateen e. Orphanet J Rare Dis. 2023 Mar 13;18(1):52. doi: 10.1186/s13023-023-02637-1. Orphanet J Rare Dis. 2023. PMID: 36907859 Free PMC article.

6

Molecular characterization of Egyptian patients with glycogen storage disease type IIIa.

Endo Y, Fateen E, Aoyama Y, Horinishi A, Ebara T, Murase T, Shin YS, Okubo M. Endo Y, et al. Among authors: fateen e. J Hum Genet. 2005;50(10):538-542. doi: 10.1007/s10038-005-0291-3. Epub 2005 Sep 28. J Hum Genet. 2005. PMID: 16189622

7

Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease.

Fateen EM, El Mawgoud HA, Eissa NR, Ibrahim MM, Aglan MS, Essawi ML. Fateen EM, et al. Gene. 2017 Feb 5;600:48-54. doi: 10.1016/j.gene.2016.11.002. Epub 2016 Nov 5. Gene. 2017. PMID: 27825773

8

Twenty- five years of biochemical diagnosis of Gaucher disease: the Egyptian experience.

Fateen E, Abdallah ZY. Fateen E, et al. Heliyon. 2019 Nov 1;5(10):e02574. doi: 10.1016/j.heliyon.2019.e02574. eCollection 2019 Oct. Heliyon. 2019. PMID: 31720445 Free PMC article.

9

Diagnosis and management of galactosemia: an Egyptian experience.

Fateen E, el-Shafei S, el-Karaksy H, Mahmoud M, Roshdy S, el-Temtamy S, Shin Y. Fateen E, et al. Bratisl Lek Listy. 2004;105(9):303-9. Bratisl Lek Listy. 2004. PMID: 15633891

10

Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene.

Essawi ML, Fateen EM, Atia HA, Eissa NR, Aboul-Ezz EH, Ibrahim MM, Hassan HA, Temtamy SA. Essawi ML, et al. Among authors: fateen em. J Genet Eng Biotechnol. 2021 Aug 3;19(1):111. doi: 10.1186/s43141-021-00204-4. J Genet Eng Biotechnol. 2021. PMID: 34342781 Free PMC article.

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