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收藏Hypertrophic cardiomyopathy as a novel phenotypic feature of NSUN3-related mitochondrial disease: a case report with review of the literature肥厚型心肌病作为NSUN3相关线粒体疾病的新的表型特征：一篇结合文献综述的病例报告
Senol Ersak, Ayse; Cagiran, Tugce; Kocyigit, Aysen; Ciki, Kismet; Yildiz, Yilmaz; Aypar, Ebru; Ketenci Islek, Serap; Simsek Kiper, Pelin Ozlem; Haliloglu, Goknur; Dursun, Ali 分享 收藏 分享 收藏 Phenotypic diversity in NAXE mutationsNAXE基因突变导致的表型多样性Solmaz, Ismail; Yalnizoglu, Dilek; Dursun, Ali; Ciki, Kismet; Akar, Halil Tuna; Ozgul, Riza Koksal; Kosukcu, Can; Sezer, Abdullah; Cagdas, Deniz; Esenboga, Saliha; Ozbek, Begum; Aygun, Damla; Yilmaz, Didem Yucel; Parlak, Safak; Gocmen, Rahsan; Oguz, Kader Karli; Anlar, Banu 分享 收藏 分享 收藏 Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria SeverityPinto, Alex; Ahring, Kirsten; Almeida, Manuela Ferreira; Ashmore, Catherine; Belanger-Quintana, Amaya; Burlina, Alberto; Coskun, Turgay; Daly, Anne; van Dam, Esther; Dursun, Ali; Evans, Sharon; Feillet, Francois; Gizewska, Maria; Gokmen-Ozel, Hulya; Hickson, Mary; Hoekstra, Yteke; Ilgaz, Fatma; Jackson, Richard; Lesniak, Alicja; Loro, Christian; Malicka, Katarzyna; Patalan, Michal; Rocha, Julio Cesar; Sivri, Serap; Rodenburg, Iris; van Spronsen, Francjan; Straczek, Kamilla; Tokatli, Aysegul; MacDonald, Anita 分享 收藏 Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?来自欧洲2012年和2018的苯丙酮尿症患者的血苯丙氨酸水平: 这是一个变化的景观吗？Pinto, Alex; Ahring, Kirsten; Almeida, Manuela Ferreira; Ashmore, Catherine; Belanger-Quintana, Amaya; Burlina, Alberto; Coskun, Turgay; Daly, Anne; van Dam, Esther; Dursun, Ali; Evans, Sharon; Feillet, Francois; Gizewska, Maria; Goekmen-oezel, Hulya; Hickson, Mary; Hoekstra, Yteke; Ilgaz, Fatma; Jackson, Richard; Lesniak, Alicja; Loro, Christian; Malicka, Katarzyna; Patalan, Michal; Rocha, Julio Cesar; Sivri, Serap; Rodenburg, Iris; van Spronsen, Francjan; Straczek, Kamilla; Tokatli, Ayseguel; Macdonald, Anita 分享 收藏 分享 收藏 TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptionsAlmousa, Hashem; Lewis, Sara A.; Bakhtiari, Somayeh; Nordlie, Sandra Hinz; Pagnozzi, Alex; Magee, Helen; Efthymiou, Stephanie; Heim, Jennifer A.; Cornejo, Patricia; Zaki, Maha S.; Anwar, Najwa; Maqbool, Shazia; Rahman, Fatima; Neilson, Derek E.; Vemuri, Anusha; Jin, Sheng Chih; Yang, Xiao-Ru; Heidari, Abolfazl; van Gassen, Koen; Trimouille, Aurelien; Thauvin-Robinet, Christel; Liu, James; Bruel, Ange-Line; Tomoum, Hoda; Shata, Mennatallah O.; Hashem, Mais O.; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Yesil, Gozde; Lingappa, Lokesh; Baruah, Debangana; Ebrahimzadeh, Farnoosh; Van-Gils, Julien; Faivre, Laurence; Zamani, Mina; Galehdari, Hamid; Sadeghian, Saeid; Shariati, Gholamreza; Mohammad, Rahema; van der Smagt, Jasper; Qari, Alya; Vincent, John B.; Innes, A. Micheil; Dursun, Ali; Ozgul, R. Koksal; Akar, Halil Tuna; Bilguvar, Kaya; Mignot, Cyril; Keren, Boris; Raveli, Claudia; Burglen, Lydie; Afenjar, Alexandra; Kaat, Laura Donker; van Slegtenhorst, Marjon; Alkuraya, Fowzan; Houlden, Henry; Padilla-Lopez, Sergio; Maroofian, Reza; Sacher, Michael; Kruer, Michael C. 分享 收藏 分享 收藏 分享 收藏 DNAJC12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant (May, 10.1007/s11011-021-00753-0, 2021)ciki, Kismet; Yildiz, Yilmaz; Yucel Yilmaz, Didem; Pektas, Emine; Tokatli, Aysegul; ozgul, R. Koksal; Sivri, H. Serap; Dursun, Ali 分享 收藏 分享 收藏 分享 收藏 Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency (vol 99, pg 69, 2019)Yildiz, Yilmaz; Talim, Beril; Haliloglu, Goknur; Topaloglu, Haluk; Akcoren, Zuhal; Dursun, Ali; Sivri, Hatice Serap; Coskun, Turgay; Tokatli, Aysegul 分享 收藏 分享 收藏 分享 收藏 The genotypic and phenotypic spectrum of MTO1 deficiencyO'Byrne, James J.; Tarailo-Graovac, Maja; Ghani, Aisha; Champion, Michael; Deshpande, Charu; Dursun, Ali; Ozgul, Riza K.; Freisinger, Peter; Garber, Ian; Haack, Tobias B.; Horvath, Rita; Baric, Ivo; Husain, Ralf A.; Kluijtmans, Leo A. J.; Kotzaeridou, Urania; Morris, Andrew A.; Ross, Colin J.; Santra, Saikat; Smeitink, Jan; Tarnopolsky, Mark; Wortmann, Saskia B.; Mayer, Johannes A.; Brunner-Krainz, Michaela; Prokisch, Holger; Wasserman, Wyeth W.; Wevers, Ron A.; Engelke, Udo F.; Rodenburg, Richard J.; Ting, Teck Wah; McFarland, Robert; Taylor, Robert W.; Salvarinova, Ramona; van Karnebeek, Clara D. M. 分享 收藏 分享 收藏 Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunctionAkizu, Naiara; Cantagrel, Vincent; Zaki, Maha S.; Al-Gazali, Lihadh; Wang, Xin; Rosti, Rasim Ozgur; Dikoglu, Esra; Gelot, Antoinette Bernabe; Rosti, Basak; Vaux, Keith K.; Scott, Eric M.; Silhavy, Jennifer L.; Schroth, Jana; Copeland, Brett; Schaffer, Ashleigh E.; Gordts, Philip L. S. M.; Esko, Jeffrey D.; Buschman, Matthew D.; Field, Seth J.; Napolitano, Gennaro; Abdel-Salam, Ghada M.; Ozgul, R. Koksal; Sagiroglu, Mahmut Samil; Azam, Matloob; Ismail, Samira; Aglan, Mona; Selim, Laila; Mahmoud, Iman G.; Abdel-Hadi, Sawsan; El Badawy, Amera; Sadek, Abdelrahim A.; Mojahedi, Faezeh; Kayserili, Hulya; Masri, Amira; Bastaki, Laila; Temtamy, Samia; Mueller, Ulrich; Desguerre, Isabelle; Casanova, Jean-Laurent; Dursun, Ali; Gunel, Murat; Gabriel, Stacey B.; de Lonlay, Pascale; Gleeson, Joseph G. 分享 收藏 
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