Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Fatih Ezgu"'
Autor:
Nur Arslan, Mahmut Coker, Gulden Fatma Gokcay, Ertugrul Kiykim, Halise Neslihan Onenli Mungan, Fatih Ezgu
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
This review by a panel of pediatric metabolic disease specialists aimed to provide a practical and implementable guidance document to assist clinicians in best clinical practice in terms of recognition, diagnosis and management of patients with acid
Externí odkaz:
https://doaj.org/article/f4e69addee974702bfcd4c2a6f2aee19
Autor:
Fatih Ezgu, Erkan Alpsoy, Zerrin Bicik Bahcebasi, Ozgur Kasapcopur, Melis Palamar, Huseyin Onay, Binnaz Handan Ozdemir, Mehmet Akif Topcuoglu, Omac Tufekcioglu
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-27 (2022)
Abstract This consensus statement by a panel of Fabry experts aimed to identify areas of consensus on conceptual, clinical and therapeutic aspects of Fabry disease (FD) and to provide guidance to healthcare providers on best practice in the managemen
Externí odkaz:
https://doaj.org/article/77fd171490604fdeaa1ae366849ab757
Autor:
Nicole Muschol, Anja Koehn, Katharina von Cossel, Ilyas Okur, Fatih Ezgu, Paul Harmatz, Maria J. de Castro Lopez, Maria Luz Couce, Shuan-Pei Lin, Spyros Batzios, Maureen Cleary, Martha Solano, Igor Nestrasil, Brian Kaufman, Adam J. Shaywitz, Stephen M. Maricich, Bernice Kuca, Joseph Kovalchin, Eric Zanelli
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 2 (2023)
Background Sanfilippo type B is a mucopolysaccharidosis (MPS) with a major neuronopathic component characterized by heparan sulfate (HS) accumulation due to mutations in the NAGLU gene encoding alfa-N-acetyl-glucosaminidase. Enzyme replacement therap
Externí odkaz:
https://doaj.org/article/3ded75f715844309990af3452c9afcb6
Autor:
Abdurrahman Akgun, Gulden Gokcay, Neslihan Onenli Mungan, Hatice Serap Sivri, Hasan Tezer, Cigdem Aktuglu Zeybek, Fatih Ezgu
Publikováno v:
Frontiers in Public Health, Vol 11 (2023)
This expert-opinion-based document was prepared by a group of specialists in pediatric inherited metabolic diseases and infectious diseases including administrative board members of Turkish Society for Pediatric Nutrition and Metabolism to provide gu
Externí odkaz:
https://doaj.org/article/1910dd11ee834a16b3614b54a8b92b29
Autor:
Murat Erdoğan, Mehmet Köse, Sevgi Pekcan, Melih Hangül, Burhan Balta, Aslıhan Kiraz, Gizem Akıncı Gönen, Ayşe Gül Zamani, Mahmut Selam Yıldırım, Tuğba Ramaslı Gürsoy, Fatih Ezgu, Tuğba Şişmanlar Eyüpoğlu, Ayse Tana Aslan
Publikováno v:
Balkan Medical Journal, Vol 38, Iss 6, Pp 357-364 (2021)
Externí odkaz:
https://doaj.org/article/ec5ce3ddafe34a4b840ad5e9b836d007
Publikováno v:
BMC Pediatrics, Vol 21, Iss 1, Pp 1-5 (2021)
Abstract Background Glycogen storage disease (GSD) type IXb is one of the rare variants of GSDs. It is a genetically heterogeneous metabolic disorder due to deficient hepatic phosphorylase kinase activity. Diagnosis of GSD can be difficult because of
Externí odkaz:
https://doaj.org/article/d9b4a1ba74324442abae191b80bf0fe7
Autor:
Zahra Beyzaei, Fatih Ezgu, Bita Geramizadeh, Mohammad Hadi Imanieh, Mahmood Haghighat, Seyed Mohsen Dehghani, Naser Honar, Mojgan Zahmatkeshan, Amirreza Jassbi, Marjan Mahboubifar, Alireza Alborzi
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Abstract Glycogen storage diseases (GSDs) are known as complex disorders with overlapping manifestations. These features also preclude a specific clinical diagnosis, requiring more accurate paraclinical tests. To evaluate the patients with particular
Externí odkaz:
https://doaj.org/article/105812549bb545ea83b52fe7f99514fb
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-5 (2021)
Abstract Background Mutations in the PRKAG2 gene encoding the 5′ Adenosine Monophosphate-Activated Protein Kinase (AMPK), specifically in its γ2 regulatory subunit, lead to Glycogen storage disease of heart, fetal congenital disorder (PRKAG2 syndr
Externí odkaz:
https://doaj.org/article/c2cba1a697094246b415ef4e47095bfe
Autor:
Zahra Beyzaei, Fatih Ezgu, Mohammad Hadi Imanieh, Mahmoud Haghighat, Seyed Mohsen Dehghani, Naser Honar, Bita Geramizadeh
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 36:331-334
Objectives Hereditary fructose intolerance (HFI) is caused by aldolase B enzyme deficiency. There has been no report about HFI from Iran and the type of mutations has not been reported in the Iranian population so far. Case presentation Herein we rep
Autor:
Derralynn A Hughes, Raphael Schiffmann, Ales Linhart, Patricio Aguiar, Patrick B Deegan, Fatih Ezgu, Andrea Frustaci, Olivier Lidove, Jean-Claude Lubanda, Kathleen Nicholls, Dau-Ming Niu, Uma Ramaswami, Ricardo Reisin, Paula Rozenfeld, Einar Svarstad, Roser Torra, Bojan Vujkovac, Michael L West, Jack Johnson, Mark J Rolfe
Publikováno v:
BMJ Open, Vol 10, Iss 10 (2020)
Objectives The PRoposing Early Disease Indicators for Clinical Tracking in Fabry Disease (PREDICT-FD) initiative aimed to reach consensus among a panel of global experts on early indicators of disease progression that may justify FD-specific treatmen
Externí odkaz:
https://doaj.org/article/d715f78e37c54b91a11df4c1b094fbaf