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Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations 黏脂贮积症II型和III型：儿科队列的临床谱系、遗传景观及纵向结局，其中包含六种新型突变 Erdem, Fehime; Canda, Ebru; Yazici, Havva; Eser, Rabia; Yoldas Celik, Merve; Kesan, Selcan; Saka Guvenc, Merve; Atik, Tahir; Tamsel, Ipek; Onay, Huseyin; Kalkan Ucar, Sema; Sozmen, Eser Yildirim; Coker, Mahmut 分享 收藏
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Long-term clinical outcomes and management of hypertriglyceridemia in children with Apo-CII deficiency Celik, Merve Yoldas; Canda, Ebru; Yazici, Havva; Erdem, Fehime; Yanbolu, Ayse Yuksel; Altinok, Yasemin Atik; Pariltay, Erhan; Akin, Haluk; Ucar, Sema Kalkan; Coker, Mahmut 分享 收藏
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Taliglucerase-alfa experience with 34 Gaucher disease patients from Turkey Mungan, Neslihan Onenli; Coker, Mahmut; Yildirim, Gonca Kilic; Uzun, Ozlem Unal; Ersoy, Melike; Zeybek, Ayse Cigdem Aktuglu; Gunes, Seda; Arslan, Nur; Tumer, Leyla; Kilic, Mustafa; Eminoglu, Tuba; Gunduz, Mehmet; Keskin, Mehmet; Kor, Deniz; Canda, Ebru; Bulut, Derya; Ucar, Sema Kalkan 分享 收藏
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Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency Gruenert, Sarah Catharina; Schmitt, Robert Niklas; Schlatter, Sonja Marina; Gemperle-Britschgi, Corinne; Balci, Mehmet Cihan; Berg, Volker; Coker, Mahmut; Das, Anibh M.; Demirkol, Mulbeccel; Derks, Terry G. J.; Gokcay, Gulden; Ucar, Sema Kalkan; Konstantopoulou, Vassiliki; Korenke, G. Christoph; Lotz-Havla, Amelie Sophia; Schlune, Andrea; Staufner, Christian; Iran, Christel; Visser, Gepke; Schwab, Karl Otfried; Fukao, Toshiyuki; Sass, Joern Oliver 分享 收藏
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients Gruenert, Sarah Catharina; Schlatter, Sonja Marina; Schmitt, Robert Niklas; Gemperle-Britschgi, Corinne; Mrazova, Lenka; Balci, Mehmet Cihan; Bischof, Felix; Coker, Mahmut; Das, Anibh M.; Demirkol, Muebeccel; de Vries, Maaike; Goekcay, Gulden; Haeberle, Johannes; Ucar, Sema Kalkan; Lotz-Havla, Amelie Sophia; Luecke, Thomas; Roland, Dominique; Rutsch, Frank; Santer, Rene; Schlune, Andrea; Staufner, Christian; Schwab, Karl Otfried; Mitchell, Grant A.; Sass, Joern Oliver 分享 收藏
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Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families Sass, Joern Oliver; Gemperle-Britschgi, Corinne; Tarailo-Graovac, Maja; Patel, Nisha; Walter, Melanie; Jordanova, Albena; Alfadhel, Majid; Baric, Ivo; Coker, Mahmut; Damli-Huber, Aynur; Faqeih, Eissa Ali; Segarra, Nuria Garcia; Geraghty, Michael T.; Jatun, Bjorn Magne; Ucar, Sema Kallcan; Kriewitz, Merten; Rauchenzauner, Markus; Bilic, Karmen; Tournev, Ivailo; Till, Claudia; Sayson, Bryan; Beumer, Daniel; Ye, Cynthia Xin; Zhang, Lin-Hua; Vallance, Hilary; Alkuraya, Fowzan S.; van Karnebeek, Clara D. M. 分享 收藏
Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study Valayannopoulos, Vassili; Baruteau, Julien; Delgado, Maria Bueno; Cano, Aline; Couce, Maria L.; Del Toro, Mireia; Donati, Maria Alice; Garcia-Cazorla, Angeles; Gil-Ortega, David; Gomez-de Quero, Pedro; Guffon, Nathalie; Hofstede, Floris C.; Kalkan-Ucar, Sema; Coker, Mahmut; Lama-More, Rosa; Casanova, Mercedes Martinez-Pardo; Molina, Agustin; Pichard, Samia; Papadia, Francesco; Rosello, Patricia; Plisson, Celine; Le Mouhaer, Jeannie; Chakrapani, Anupam 分享 收藏
Clinical course of sly syndrome (mucopolysaccharidosis type VII) Montano, Adriana M.; Lock-Hock, Ngu; Steiner, Robert D.; Graham, Brett H.; Szlago, Marina; Greenstein, Robert; Pineda, Mercedes; Gonzalez-Meneses, Antonio; Coker, Mahmut; Bartholomew, Dennis; Sands, Mark S.; Wang, Raymond; Giugliani, Roberto; Macaya, Alfons; Pastores, Gregory; Ketko, Anastasia K.; Ezgu, Fatih; Tanaka, Akemi; Arash, Laila; Beck, Michael; Falk, Rena E.; Bhattacharya, Kaustuv; Franco, Jose; White, Klane K.; Mitchell, Grant A.; Cimbalistiene, Loreta; Holtz, Max; Sly, William S. 分享 收藏
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency Burton, B. K.; Balwani, M.; Feillet, F.; Baric, I.; Burrow, T. A.; Camarena Grande, C.; Coker, M.; Consuelo-Sanchez, A.; Deegan, P.; Di Rocco, M.; Enns, G. M.; Erbe, R.; Ezgu, F.; Ficicioglu, C.; Furuya, K. N.; Kane, J.; Laukaitis, C.; Mengel, E.; Neilan, E. G.; Nightingale, S.; Peters, H.; Scarpa, M.; Schwab, K. O.; Smolka, V.; Valayannopoulos, V.; Wood, M.; Goodman, Z.; Yang, Y.; Eckert, S.; Rojas-Caro, S.; Quinn, A. G. 分享 收藏
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Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: Characterization of a founder mutation by use of recombinant CPS1 from insect cells expression Hu, Liyan; Diez-Fernandez, Carmen; Ruefenacht, Veronique; Hismi, Burcu Ozturk; Unal, Ozlem; Soyucen, Erdogan; Coker, Mahmut; Bayraktar, Bilge Tanyeri; Gunduz, Mehmet; Kiykim, Ertugrul; Olgac, Asburce; Perez-Tur, Jordi; Rubio, Vicente; Haeberle, Johannes 分享 收藏
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