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Page 1
Genotype-Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study.
Yazıcı H, Kara E, Bulut FD, Çelik MY, Köşeci B, Erdem F, Burgaç E, Yanbolu AY, Kaplan İ, Durmaz A, Aykut A, Canda E, Kor D, Uçar SK, Sözmen E, Çoker M, Mungan HNÖ. Yazıcı H, et al. Among authors: mungan hno. Diagnostics (Basel). 2025 Oct 31;15(21):2773. doi: 10.3390/diagnostics15212773. Diagnostics (Basel). 2025. PMID: 41226065 Free PMC article.
A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics.
Balci MC, Kor D, Yildiz Y, Karaca M, Bulut FD, Kahraman AB, Yesil A, Burgac E, Ciki K, Selamioglu A, Koseci B, Durmus A, Kaplan I, Kara E, Mungan HN, Sivri S, Gokcay GF, Tokatli A, Demirkol M, Coskun T, Ozalp I. Balci MC, et al. Among authors: mungan hn. Orphanet J Rare Dis. 2025 Aug 1;20(1):394. doi: 10.1186/s13023-025-03702-7. Orphanet J Rare Dis. 2025. PMID: 40751258 Free PMC article.
Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients.
Peters B, Schlieben LD, Brennenstuhl H, Arikan C, Bedoyan SM, Bulut FD, Crushell E, Dionisi-Vici C, Drab A, Fichtner A, Garcia AG, Fry D, Garbade SF, Hammann N, Hadzic N, Hegarty R, Jørgensen MH, Laaß M, Lainka E, Leghlam L, Lurz E, Mungan HNÖ, Pietrobattista A, Polo B, Socha P, Squires JE, Sun T, Vogel GF, Prokisch H, Kölker S, Hoffmann GF, Staufner C, Lenz D. Peters B, et al. Among authors: mungan hno. Liver Int. 2025 Jul;45(7):e70146. doi: 10.1111/liv.70146. Liver Int. 2025. PMID: 40433928 Free PMC article.
Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial.
Muntau AC, Longo N, Ezgu F, Schwartz IVD, Lah M, Bratkovic D, Margvelashvili L, Kiykim E, Zori R, Campistol Plana J, Bélanger-Quintana A, Lund A, Guilder L, Chakrapani A, Mungan HN, Guimas A, Cabrales Guerra IDC, MacDonald A, Ingalls K, Smith N; APHENITY study group. Muntau AC, et al. Among authors: mungan hn. Lancet. 2024 Oct 5;404(10460):1333-1345. doi: 10.1016/S0140-6736(24)01556-3. Lancet. 2024. PMID: 39368841 Clinical Trial.