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Trappsol® cyclo™: Open label treatment in the transportnpcTM sub-study in patients under the age of 3 diagnosed with Niemann-Pick disease type C1 Chacham, Orna Staretz; Ezgu, Fatih S.; Giugliani, Roberto; Mengel, Eugen; Ucar, Seema; Spiegel, Ronen; Hastings, Caroline A.; Hurst, Bryan; Murray, Bryan J.; Brecht, Andreas F.; Mejia, Joseph 分享 收藏
Survival and causes of death in patients with Gaucher disease type 3: A multinational cross-sectional study Mengel, Eugen; Stanescu, Sinziana; Fonzo, Alessio Barnaba Di; Djatche, Laurence; Aragon, Maria Jose; Pulikottil-Jacob, Ruth; Santana, Idaira Rodriguez; Perichon, Maria G.; Palli, Jagan; Ezgu, Fatih S. 分享 收藏
Trappsol® CycloTM (hpβCd) for the long-term treatment of Niemann Pick type C1: Efficacy and safety data from 4 clinical studies and the ongoing expanded access program Hastings, Caroline A.; Ezgu, Fatih S.; Giugliani, Roberto; Kiec-Wilk, Beata; Pawlinski, Lukasz; Mengel, Eugen; Martin-Hernandez, Elena; Ucar, Seema; Sharma, Reena; Smith, Nicholas J. C.; Chien, Yin-Hsiu; Walterfang, Mark; Alsayed, Moeen; Goker-Alpan, Ozlem; Mendonca, Leonardo O.; Raiman, Julian A.; Spiegel, Ronen; Barone, Rita Maria Elisa; Burlina, Alberto; Calandra, Cristian R.; Bayarri, Jordi Gascon; Peters, Heidi; Murray, Bryan J.; Brecht, Andreas F.; Mejia, Joseph 分享 收藏
Trappsol®CycloTM and NPC: Efficacy shown across individual 5D domains and utilization of future assessment tools to demonstrate clinically relevant outcomes Hastings, Caroline A.; Ezgu, Fatih S.; Giugliani, Roberto; Kiec-Wilk, Beata; Pawlinski, Lukasz; Mengel, Eugen; Mohand, Patricia Perez; Ucar, Seema; Sharma, Reena; Smith, Nicholas J. C.; Chien, Yin-Hsiu; Walterfang, Mark; Alsayed, Moeen; Goker-Alpan, Ozlem; Mendonca, Leonardo O.; Raiman, Julian A.; Spiegel, Ronen; Barone, Rita Maria Elisa; Burlina, Alberto; Calandra, Cristian R.; Bayarri, Jordi Gascon; Peters, Heidi; Murray, Bryan J.; Brecht, Andreas F.; Mejia, Joseph 分享 收藏
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Association between CLOCK gene polymorphisms with circadian rhythm, chrononutrition, dietary intake, and metabolic parameters in adolescents Uyar, Gizem Ozata; Yildiran, Hilal; Teker-Duztas, Demet; Dalgic, Buket; Karakas, Nazmi Mutlu; Camurdan, Mahmut Orhun; Ergin, Filiz Basak; Ezgu, Fatih Suheyl 分享 收藏
Intestinal microbiota composition of children with glycogen storage Type I patients (vol 78, pg 407, 2024) Gokalp, Sabire; Dinleyici, Ener Cagri; Muluk, Cansu; Inci, Asli; Aktas, Emine; Okur, Ilyas; Ezgu, Fatih; Tumer, Leyla 分享 收藏
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Facilitating intrafamily communication to enable earlier diagnosis of Fabry disease in relatives: Expert opinion Germain, Dominique P.; Al Murshedi, Fathiya; Al Jasmi, Fatma; Altarescu, Gheona; Azevedo, Olga; Barreto, Fellype C.; Ezgu, Fatih; Laney, Dawn A.; Moiseev, Sergey; Nochioka, Kotaro; Ouyang, Yan; Onay, Huseyin; Pavlou, Mary; Pachter, Nicholas; Politei, Juan; Sunbul, Rawda; Steeds, Rick; Yu, Wen-Chung; West, Michael L.; Maski, Manish; Maksimova, Irina 分享 收藏
Transport®NPC: open phase 3 global trial of intravenous hydroxypropyl-beta-cyclodextrin in patients with Niemann-Pick disease type C1 (NPC1) Hastings, Caroline A.; Goker-Alpan, Ozlem; Pena, Loren; Bayarri, Jordi Gascon; Martin-Hernandez, Elena; Sharma, Reena; Chacham, Orna Staretz; Spiegel, Ronen; Mengel, Eugen; Walterfang, Mark; Peters, Heidi; Fung, Victor S.; Kiec-Wilk, Beata; Smith, Nicholas; Giugliani, Roberto; Guelbert, Norberto; Ezgu, Fatih; Ucar, Sema Kalkan; Murray, Bryan J.; Brecht, Andreas F.; Mejia, Joseph 分享 收藏
Clinical characteristics of adult and paediatric patients with familial hypercholesterolemia: A real-life cross-sectional study from the Turkish National Database Sonmez, Alper; Demirci, Ibrahim; Haymana, Cem; Tasci, Ilker; Ayvali, Mustafa Okan; Ata, Naim; Ezgu, Fatih Suheyl; Bayram, Fahri; Barcin, Cem; Caglayan, Murat; Ulgu, Mustafa Mahir; Birinci, Suayip; Tokgozoglu, Lale; Satman, Ilhan; Kayikcioglu, Meral 分享 收藏
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B) Geberhiwot, Tarekegn; Wasserstein, Melissa; Wanninayake, Subadra; Bolton, Shaun Christopher; Dardis, Andrea; Lehman, Anna; Lidove, Olivier; Dawson, Charlotte; Giugliani, Roberto; Imrie, Jackie; Hopkin, Justin; Green, James; Corbeira, Daniel de Vicente; Madathil, Shyam; Mengel, Eugen; Ezgu, Fatih; Pettazzoni, Magali; Sjouke, Barbara; Hollak, Carla; Vanier, Marie T.; McGovern, Margaret; Schuchman, Edward 分享 收藏
Retargeting phenylbutyrate, ursodeoxycholic acid, pyrimethamine and betaine for beta-glucocerebrosidase recovery in Gaucher disease fibroblasts resulting from homozygous p. L483P mutation Kilic, Ayse; Biberoglu, Gursel; Oktem, Murat; Inci, Asli; Demirel, Sumeyye Aydogdu; Udgu, Basak; Yuce, Alime B.; Gonul, Ipek; Okur, Ilyas; Tumer, Leyla; Ezgu, Fatih 分享 收藏
Updated interim safety, biomarker, and efficacy data from Imagine-1: A phase 1/2 open-label, multicenter study to assess the safety, tolerability, and efficacy of a single dose, intra-cisterna magna (ICM) administration of PBGM01 in subjects with type I (early onset) and type IIA (late onset) infantile GM1 gangliosidosis (GM1) Jarnes, Jeanine R.; Hastings, Caroline A.; Ficicioglu, Can H.; Day-Salvatore, Debra-Lynn; Giugliani, Roberto; Baruteau, Julien; Whitley, Chester B.; Inbar-Feigenberg, Michal; Bernard, Genevieve; Ezgu, Fatih S.; Ni, Yan G.; Miller, Michelle; Gelb, Michael H.; Nagilla, Pruthvi; Johnstone, Rose; Elsasser, Patricia; Cunningham, Elizabeth; Ballard, Victoria; Haws, Thomas F.; Forman, Mark S.; Weinstein, David A. 分享 收藏
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A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B Muschol, Nicole; Koehn, Anja; von Cossel, Katharina; Okur, Ilyas; Ezgu, Fatih; Harmatz, Paul; Lopez, Maria J. de Castro; Couce, Maria Luz; Lin, Shuan-Pei; Batzios, Spyros; Cleary, Maureen; Solano, Martha; Nestrasil, Igor; Kaufman, Brian; Shaywitz, Adam J.; Maricich, Stephen M.; Kuca, Bernice; Kovalchin, Joseph; Zanelli, Eric 分享 收藏
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