Novel PRKAG2 variant presenting as liver cirrhosis: report of a family with 2 cases and review of literature

por Beyzaei, Zahra, Ezgu, Fatih, Geramizadeh, Bita, Alborzi, Alireza, Shojazadeh, Alireza
Publicado 2021

Novel mutations in the PHKB gene in an iranian girl with severe liver involvement and glycogen storage disease type IX: a case report and review of literature

por Beyzaei, Zahra, Ezgu, Fatih, Geramizadeh, Bita, Alborzi, Alireza, Shojazadeh, Alireza
Publicado 2021

Clinical and event-based outcomes of patients with mucopolysaccharidosis VI receiving enzyme replacement therapy in Turkey: a case series

por İnci, Aslı, Okur, İlyas, Tümer, Leyla, Biberoğlu, Gürsel, Öktem, Murat, Ezgü, Fatih
Publicado 2021

A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation

por Kasapkara, Çiğdem Seher, Tümer, Leyla, Zanetti, Nadia, Ezgü, Fatih, Lamantea, Eleonora, Zeviani, Massimo
Publicado 2017

Effect of Cytokine Signaling 3 Gene Polymorphisms in Childhood Obesity

por Boyraz, Mehmet, Yeşilkaya, Ediz, Ezgü, Fatih, Bideci, Aysun, Doğan, Haldun, Ulucan, Korkut, Cinaz, Peyami
Publicado 2016

Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective

por Arslan, Nur, Coker, Mahmut, Gokcay, Gulden Fatma, Kiykim, Ertugrul, Onenli Mungan, Halise Neslihan, Ezgu, Fatih
Publicado 2023

The role of IFIH1 gene rs1990760 and rs2111485 single-nucleotide polymorphisms in generalized vitiligo predisposition

por ONAN, Duru, YORULMAZ, Ahu, EZGÜ, Fatih Süheyl, HAYRAN, Kadir Mutlu, KÜLCÜ, Seray, ARTÜZ, Refika Ferda, YALÇIN, Başak
Publicado 2019

Addressing the need for patient-friendly medical communications: adaptation of the 2019 recommendations for the management of MPS VI and MPS IVA

por Bruce, Iain A., Ezgü, Fatih S., Kampmann, Christoph, Kenis, Vladimir, Mackenzie, William, Stevens, Bob, Walker, Robert, Hendriksz, Christian
Publicado 2022

Expert-opinion-based guidance for the care of children with lysosomal storage diseases during the COVID-19 pandemic: An experience-based Turkey perspective

por Akgun, Abdurrahman, Gokcay, Gulden, Mungan, Neslihan Onenli, Sivri, Hatice Serap, Tezer, Hasan, Zeybek, Cigdem Aktuglu, Ezgu, Fatih
Publicado 2023

Study design challenges and strategies in clinical trials for rare diseases: Lessons learned from pantothenate kinase-associated neurodegeneration

por Videnovic, Aleksandar, Pfeiffer, Helle C. V., Tylki-Szymańska, Anna, Berry-Kravis, Elizabeth, Ezgü, Fatih, Ganju, Jitendra, Jurecka, Agnieszka, Lang, Anthony E.
Publicado 2023

Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective

por Ezgu, Fatih, Alpsoy, Erkan, Bicik Bahcebasi, Zerrin, Kasapcopur, Ozgur, Palamar, Melis, Onay, Huseyin, Ozdemir, Binnaz Handan, Topcuoglu, Mehmet Akif, Tufekcioglu, Omac
Publicado 2022

Secondary Hemophagocytosis in Propionic Acidemia

por Kasapkara, Cigdem Seher, Kangin, Murat, Oflaz Ozmen, Banu, Ozbek, Mehmet Nuri, Demir, Remezan, Karatas, Mustafa, Tumer, Leyla, Ezgu, Fatih Suhey, Hasanoglu, Alev
Publicado 2015

Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing

por Beyzaei, Zahra, Ezgu, Fatih, Geramizadeh, Bita, Imanieh, Mohammad Hadi, Haghighat, Mahmood, Dehghani, Seyed Mohsen, Honar, Naser, Zahmatkeshan, Mojgan, Jassbi, Amirreza, Mahboubifar, Marjan, Alborzi, Alireza
Publicado 2021

Author Correction: Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing

por Beyzaei, Zahra, Ezgu, Fatih, Geramizadeh, Bita, Imanieh, Mohammad Hadi, Haghighat, Mahmood, Dehghani, Seyed Mohsen, Honar, Naser, Zahmatkeshan, Mojgan, Jassbi, Amirreza, Mahboubifar, Marjan, Alborzi, Alireza
Publicado 2021

Long-Term Experience with Anaphylaxis and Desensitization to Alglucosidase Alfa in Pompe Disease

por Ertoy Karagol, Hacer Ilbilge, Inci, Asli, Terece, Sinem Polat, Kilic, Ayse, Demir, Fevzi, Yapar, Dilek, Koken, Gizem, Okur, Ilyas, Ezgu, Fatih Suheyl, Tumer, Leyla, Bakirtas, Arzu
Publicado 2023

Posterior fossa horns; a new calvarial finding of mucopolysaccharidoses with well-known cranial MRI features

por DAMAR, Çağrı, DERİNKUYU, Betül Emine, KILIÇKAYA, Muazzez Asburçe Bike Olgaç, ÖZTÜRK, Mehmet, ÖZTUNALI, Çiğdem, ALIMLI, Ayşe Gül, BOYUNAĞA, Öznur Leman, UÇAR, Murat, EZGÜ, Fatih Süheyl, TÜMER, Leyla, BÖRCEK, Alp Özgün, SIĞIRCI, Ahmet
Publicado 2020

The Genetic Analysis of Cystic Fibrosis Patients with Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey

por Erdoğan, Murat, Köse, Mehmet, Pekcan, Sevgi, Hangül, Melih, Balta, Burhan, Kiraz, Aslıhan, Akıncı Gönen, Gizem, Gül Zamani, Ayşe, Selman Yıldırım, Mahmut, Ramaslı Gürsoy, Tuğba, Ezgu, Fatih, Şişmanlar Eyüpoğlu, Tuğba, Tana Aslan, Ayse
Publicado 2021

Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study

por Jones, Simon A., Rojas-Caro, Sandra, Quinn, Anthony G., Friedman, Mark, Marulkar, Sachin, Ezgu, Fatih, Zaki, Osama, Gargus, J. Jay, Hughes, Joanne, Plantaz, Dominique, Vara, Roshni, Eckert, Stephen, Arnoux, Jean-Baptiste, Brassier, Anais, Le Quan Sang, Kim-Hanh, Valayannopoulos, Vassili
Publicado 2017

A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B

por Muschol, Nicole, Koehn, Anja, von Cossel, Katharina, Okur, Ilyas, Ezgu, Fatih, Harmatz, Paul, de Castro Lopez, Maria J., 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
Publicado 2023

Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)

por 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, de Vicente Corbeira, Daniel, Madathil, Shyam, Mengel, Eugen, Ezgü, Fatih, Pettazzoni, Magali, Sjouke, Barbara, Hollak, Carla, Vanier, Marie T., McGovern, Margaret, Schuchman, Edward
Publicado 2023