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Page 1
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.
Piras R, Chiappe F, Torraca IL, Buers I, Usala G, Angius A, Akin MA, Basel-Vanagaite L, Benedicenti F, Chiodin E, El Assy O, Feingold-Zadok M, Guibert J, Kamien B, Kasapkara CS, Kiliç E, Boduroğlu K, Kurtoglu S, Manzur AY, Onal EE, Paderi E, Roche CH, Tümer L, Unal S, Utine GE, Zanda G, Zankl A, Zampino G, Crisponi G, Crisponi L, Rutsch F. Piras R, et al. Among authors: tumer l. Hum Mutat. 2014 Apr;35(4):424-33. doi: 10.1002/humu.22522. Epub 2014 Mar 6. Hum Mutat. 2014. PMID: 24488861
Management of phenylketonuria in Europe: survey results from 19 countries.
Blau N, Bélanger-Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A, Trefz FK, van Spronsen F; European PKU centers. Blau N, et al. Mol Genet Metab. 2010 Feb;99(2):109-15. doi: 10.1016/j.ymgme.2009.09.005. Epub 2009 Sep 13. Mol Genet Metab. 2010. PMID: 19800826
A possibly new autoinflammatory disease due to compound heterozygous phosphomevalonate kinase gene mutation.
Yıldız Ç, Gezgin Yıldırım D, Inci A, Tümer L, Cengiz Ergin FB, Sunar Yayla ENS, Esmeray Şenol P, Karaçayır N, Eğritaş Gürkan Ö, Okur I, Ezgü FS, Bakkaloğlu SA. Yıldız Ç, et al. Among authors: tumer l. Joint Bone Spine. 2023 Jan;90(1):105490. doi: 10.1016/j.jbspin.2022.105490. Epub 2022 Nov 18. Joint Bone Spine. 2023. PMID: 36410683
New perspectives for the treatment and follow-up of glycogen storage disease type V: DL-3-hydroxybutyric acid with modified Atkins diet and quadriceps femoris shear wave elastography.
Özsaydı Aktaşoğlu E, Kılıç A, Emecen Şanlı M, İnci A, Aktaş E, Akdulum İ, Yaylı N, Okur İ, Ezgü FS, Tümer L. Özsaydı Aktaşoğlu E, et al. Among authors: tumer l. J Pediatr Endocrinol Metab. 2024 Aug 6;37(9):820-824. doi: 10.1515/jpem-2024-0284. Print 2024 Sep 25. J Pediatr Endocrinol Metab. 2024. PMID: 39101220
Long-Term Experience with Anaphylaxis and Desensitization to Alglucosidase Alfa in Pompe Disease.
Ertoy Karagol HI, Inci A, Terece SP, Kilic A, Demir F, Yapar D, Koken G, Okur I, Ezgu FS, Tumer L, Bakirtas A; Gazi University Enzyme Replacement Therapy Hypersensitivity Study Group. Ertoy Karagol HI, et al. Among authors: tumer l. Int Arch Allergy Immunol. 2023;184(4):370-375. doi: 10.1159/000528343. Epub 2023 Jan 9. Int Arch Allergy Immunol. 2023. PMID: 36623499 Free PMC article.
Is Ultrasonography a Reliable Approach for the Evaluation of Carpal Tunnel Syndrome in Patients With Mucopolysaccharidosis?
Koç Yekedüz M, Köse E, İnci A, Yüksel MF, Doğulu N, Şen Akova B, Yeniay Süt N, Öncül Ü, Yildirim M, Fitoz S, Teber S, Tümer L, Eminoğlu FT. Koç Yekedüz M, et al. Among authors: tumer l. Pediatr Neurol. 2024 Jun;155:171-176. doi: 10.1016/j.pediatrneurol.2024.03.032. Epub 2024 Apr 5. Pediatr Neurol. 2024. PMID: 38669799
115 results