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Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
Grünert SC, Derks TGJ, Adrian K, Al-Thihli K, Ballhausen D, Bidiuk J, Bordugo A, Boyer M, Bratkovic D, Brunner-Krainz M, Burlina A, Chakrapani A, Corpeleijn W, Cozens A, Dawson C, Dhamko H, Milosevic MD, Eiroa H, Finezilber Y, Moura de Souza CF, Garcia-Jiménez MC, Gasperini S, Haas D, Häberle J, Halligan R, Fung LH, Hörbe-Blindt A, Horka LM, Huemer M, Uçar SK, Kecman B, Kilavuz S, Kriván G, Lindner M, Lüsebrink N, Makrilakis K, Mei-Kwun Kwok A, Maier EM, Maiorana A, McCandless SE, Mitchell JJ, Mizumoto H, Mundy H, Ochoa C, Pierce K, Fraile PQ, Regier D, Rossi A, Santer R, Schuman HC, Sobieraj P, Spenger J, Spiegel R, Stepien KM, Tal G, Tanšek MZ, Torkar AD, Tchan M, Thyagu S, Schrier Vergano SA, Vucko E, Weinhold N, Zsidegh P, Wortmann SB. Grünert SC, et al. Among authors: kilavuz s. Genet Med. 2022 Aug;24(8):1781-1788. doi: 10.1016/j.gim.2022.04.001. Epub 2022 May 3. Genet Med. 2022. PMID: 35503103 Free article.
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.
Kuseyri Hübschmann O, Horvath G, Cortès-Saladelafont E, Yıldız Y, Mastrangelo M, Pons R, Friedman J, Mercimek-Andrews S, Wong SN, Pearson TS, Zafeiriou DI, Kulhánek J, Kurian MA, López-Laso E, Oppebøen M, Kılavuz S, Wassenberg T, Goez H, Scholl-Bürgi S, Porta F, Honzík T, Santer R, Burlina A, Sivri HS, Leuzzi V, Hoffmann GF, Jeltsch K, Hübschmann D, Garbade SF; iNTD Registry Study Group; García-Cazorla A, Opladen T. Kuseyri Hübschmann O, et al. Among authors: kilavuz s. Nat Commun. 2021 Sep 20;12(1):5529. doi: 10.1038/s41467-021-25515-5. Nat Commun. 2021. PMID: 34545092 Free PMC article.
Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis.
Bulut FD, Kor D, Kılavuz S, Şeker Yılmaz B, Kaplan İ, Ekinci F, Burgaç E, Varol İ, Köşeci B, Tuğ Bozdoğan S, Kara E, Demir F, Deniz A, Temiz F, Önenli Mungan N. Bulut FD, et al. Among authors: kilavuz s. Eur J Med Genet. 2023 Jun;66(6):104764. doi: 10.1016/j.ejmg.2023.104764. Epub 2023 Apr 13. Eur J Med Genet. 2023. PMID: 37061027
Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations.
Kör D, Şeker-Yılmaz B, Bulut FD, Kılavuz S, Öktem M, Ceylaner S, Yıldızdaş D, Önenli-Mungan N. Kör D, et al. Among authors: kilavuz s. Turk J Pediatr. 2019;61(3):330-336. doi: 10.24953/turkjped.2019.03.003. Turk J Pediatr. 2019. PMID: 31916709 Free article.
Kor D, Seker-Yilmaz B, Bulut FD, Kilavuz S, Oktem M, Ceylaner S, Yildizdas D, Onenli-Mungan N. Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations. ...
Kor D, Seker-Yilmaz B, Bulut FD, Kilavuz S, Oktem M, Ceylaner S, Yildizdas D, Onenli-Mungan N. Clinical features of 27 …
27 results