Ezgu FS - Search Results

1

Desensitisation of the youngest patient with Pompe disease in response to alglucosidase alfa.

Karagol IH, Bakirtas A, Yilmaz O, Topal E, Kucukcongar A, Ezgu FS, Demirsoy MS, Turktas I. Karagol IH, et al. Among authors: ezgu fs. Allergol Immunopathol (Madr). 2014 Jul-Aug;42(4):372-5. doi: 10.1016/j.aller.2013.02.012. Epub 2013 Jun 14. Allergol Immunopathol (Madr). 2014. PMID: 23769736 No abstract available.

2

Coagulopathy in Gaucher disease.

Oztürk G, Koçak U, Gürsel T, Ezgü FS. Oztürk G, et al. Among authors: ezgu fs. Indian J Pediatr. 1998 Sep-Oct;65(5):771-2. doi: 10.1007/BF02731067. Indian J Pediatr. 1998. PMID: 10773938 No abstract available.

3

Suspected allergy to lamotrigine.

Gücüyener K, Türktaş I, Serdaroglu A, Ezgü FS. Gücüyener K, et al. Among authors: ezgu fs. Allergy. 1999 Jul;54(7):767-8. doi: 10.1034/j.1398-9995.1999.00178.x. Allergy. 1999. PMID: 10442540 No abstract available.

4

Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC mutation during initial next generation DNA sequencing.

Ezgu F, Çiftci B, Topçu B, Adıyaman G, Gökmenoğlu H, Küçükçongar A, Kasapkara Ç, Biberoğlu G, Tümer L, Hasanoğlu A. Ezgu F, et al. Metab Brain Dis. 2014 Mar;29(1):211-3. doi: 10.1007/s11011-014-9482-y. Epub 2014 Jan 11. Metab Brain Dis. 2014. PMID: 24407464

5

High incidence of co-existing factors significantly modifying the phenotype in patients with Fabry disease.

Koca S, Tümer L, Okur İ, Erten Y, Bakkaloğlu S, Biberoğlu G, Kasapkara Ç, Küçükçongar A, Dalgıç B, Oktar SÖ, Öner Y, Atalay T, Cemri M, Çiftçi B, Topçu B, Hasanoğlu A, Ezgü F. Koca S, et al. Gene. 2019 Mar 1;687:280-288. doi: 10.1016/j.gene.2018.11.054. Epub 2018 Nov 20. Gene. 2019. PMID: 30468909

6

First successful concomitant therapy of immune tolerance induction therapy and desensitization in a CRIM-negative infantile Pompe patient.

Emecen Sanli M, Ertoy Karagol HI, Kilic A, Aktasoglu E, Inci A, Okur I, Ezgu F, Tumer L. Emecen Sanli M, et al. J Pediatr Endocrinol Metab. 2021 Sep 27;35(2):273-277. doi: 10.1515/jpem-2021-0133. Print 2022 Feb 23. J Pediatr Endocrinol Metab. 2021. PMID: 34561975

7

Rapid molecular diagnosis of genetic diseases by high resolution melting analysis: fabry and glycogen storage 1A diseases.

Ezgu F, Divanoglu Y, Polat M, Bahceci S, Hasanoglu A, Desnick RJ. Ezgu F, et al. Genet Test Mol Biomarkers. 2014 Jan;18(1):3-7. doi: 10.1089/gtmb.2013.0371. Epub 2013 Dec 17. Genet Test Mol Biomarkers. 2014. PMID: 24341606

8

Novel mutations in the PHKB gene in an iranian girl with severe liver involvement and glycogen storage disease type IX: a case report and review of literature.

Beyzaei Z, Ezgu F, Geramizadeh B, Alborzi A, Shojazadeh A. Beyzaei Z, et al. BMC Pediatr. 2021 Apr 15;21(1):175. doi: 10.1186/s12887-021-02648-6. BMC Pediatr. 2021. PMID: 33858366 Free PMC article. Review.

9

Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.

Geramizadeh B, Ezgu F, Beyzaei Z. Geramizadeh B, et al. Orphanet J Rare Dis. 2024 Dec 20;19(1):475. doi: 10.1186/s13023-024-03488-0. Orphanet J Rare Dis. 2024. PMID: 39707443 Free PMC article. Review.

10

Cholesteryl ester storage disease in a young child presenting as isolated hepatomegaly treated with simvastatin.

Dalgiç B, Sari S, Gündüz M, Ezgü F, Tümer L, Hasanoğlu A, Akyol G. Dalgiç B, et al. Turk J Pediatr. 2006 Apr-Jun;48(2):148-51. Turk J Pediatr. 2006. PMID: 16848116

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