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Co-Occurring Atypical Galactosemia and Wilson Disease.
Doğulu N, Kose E, Tuna Kirsaçlioğlu C, Ezgü FS, Kuloğlu Z, Kansu A, Eminoglu FT. Doğulu N, et al. Mol Syndromol. 2022 Dec;13(5):454-458. doi: 10.1159/000524004. Epub 2022 Apr 27. Mol Syndromol. 2022. PMID: 36588756 Free PMC article.
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).
Geberhiwot T, Wasserstein M, Wanninayake S, Bolton SC, Dardis A, Lehman A, Lidove O, Dawson C, Giugliani R, Imrie J, Hopkin J, Green J, de Vicente Corbeira D, Madathil S, Mengel E, Ezgü F, Pettazzoni M, Sjouke B, Hollak C, Vanier MT, McGovern M, Schuchman E. Geberhiwot T, et al. Among authors: ezgu f. Orphanet J Rare Dis. 2023 Apr 17;18(1):85. doi: 10.1186/s13023-023-02686-6. Orphanet J Rare Dis. 2023. PMID: 37069638 Free PMC article.
The co-existence of Fabry and celiac diseases: a case report.
Tümer L, Ezgü FS, Hasanoğlu A, Dalgiç B, Bakkaloğlu SA, Memiş L, Dursun A. Tümer L, et al. Pediatr Nephrol. 2004 Jun;19(6):679-81. doi: 10.1007/s00467-004-1462-8. Epub 2004 Apr 15. Pediatr Nephrol. 2004. PMID: 15085421
129 results