Zobrazeno 1 - 10
of 87
pro vyhledávání: '"Baris Malbora"'
Autor:
Chulaluk Kuptanon, Marie Morimoto, Elena-Raluca Nicoli, Joshi Stephen, David S. Yarnell, Heidi Dorward, William Owen, Suhag Parikh, Namik Yasar Ozbek, Baris Malbora, Carla Ciccone, Meral Gunay-Aygun, William A. Gahl, Wendy J. Introne, May Christine V. Malicdan
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Chediak-Higashi syndrome (CHS) is rare autosomal recessive disorder caused by bi-allelic variants in the Lysosomal Trafficking Regulator (LYST) gene. Diagnosis is established by the detection of pathogenic variants in LYST in combinatio
Externí odkaz:
https://doaj.org/article/a5b5866443d44273bd3fd32bca890596
Autor:
Havva Yazıcı, Ebru Canda, Esra Er, Baris Malbora, Burcu Ozturk Hismi, Huseyin Onay, Serap Aksoylar, Sema Kalkan Uçar, Ferda Ozkinay, Mahmut Çoker
Publikováno v:
Journal of Behçet Uz Children's Hospital, Vol 11, Iss 2, Pp 198-201 (2021)
Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease due to mutations within the gene IDUA encoding the 'α-L-iduronidase'. The clinical manifestations concern multisystemic involvement. There are two disease modifying therapies, enzym
Externí odkaz:
https://doaj.org/article/c49c72c8015242dba0594fd927bce364
Autor:
Ivan Ivanovski, Olivera Djuric, Serena Broccoli, Stefano Giuseppe Caraffi, Patrizia Accorsi, Margaret P. Adam, Kristina Avela, Magdalena Badura-Stronka, Allan Bayat, Jill Clayton-Smith, Isabella Cocco, Duccio Maria Cordelli, Goran Cuturilo, Veronica Di Pisa, Juliette Dupont Garcia, Roberto Gastaldi, Lucio Giordano, Andrea Guala, Christina Hoei-Hansen, Mie Inaba, Alessandro Iodice, Jens Erik Klint Nielsen, Vladimir Kuburovic, Brissia Lazalde-Medina, Baris Malbora, Seiji Mizuno, Oana Moldovan, Rikke S. Møller, Petra Muschke, Valeria Otelli, Chiara Pantaleoni, Carmelo Piscopo, Maria Luisa Poch-Olive, Igor Prpic, Purificación Marín Reina, Federico Raviglione, Emilia Ricci, Emanuela Scarano, Graziella Simonte, Robert Smigiel, George Tanteles, Luigi Tarani, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Karin Writzl, Bert Callewaert, Salvatore Savasta, Maria Elisabeth Street, Lorenzo Iughetti, Sergio Bernasconi, Paolo Giorgi Rossi, Livia Garavelli
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Abstract Background Mowat–Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschsprung disease and
Externí odkaz:
https://doaj.org/article/80124a98602c4794863224c650289c08
Autor:
Michel Guipponi, Frédéric Masclaux, Frédérique Sloan-Béna, Corinne Di Sanza, Namik Özbek, Flora Peyvandi, Marzia Menegatti, Alessandro Casini, Baris Malbora, Marguerite Neerman-Arbez
Publikováno v:
Haematologica, Vol 107, Iss 5 (2021)
Congenital afibrinogenemia is the most severe congenital fibrinogen disorder, characterized by undetectable fibrinogen in circulation. Causative mutations can be divided into two main classes: null mutations with no protein production at all and miss
Externí odkaz:
https://doaj.org/article/c125d7ef28a24e41a5ba6e9a79701f8e
Autor:
Baris Malbora, Ozgur Kirbiyik
Publikováno v:
Pediatric Hematology Oncology Journal, Vol 2, Iss 3, Pp 68-70 (2017)
Hemophilia A is an X-linked recessive disorder characterized by congenital deficiency of factor VIII. Mostly, males are affected. Cases of hemophilia A are unusual in females but can result from certain genetic mechanisms. The severity of bleeding in
Externí odkaz:
https://doaj.org/article/ea981ca7c5c74b0ebb0d8b1cfd0b85c8
Publikováno v:
Mediterranean Journal of Hematology and Infectious Diseases, Vol 1 (2014)
Background: Human species does not synthesize vitamin B12. In developing countries, vitamin B12 deficiency in infants due to maternal diet without adequate protein of animal origin has some characteristic clinical and laboratory features. We report o
Externí odkaz:
https://doaj.org/article/faa8a9a54309409ab76c5b43e3aaac74
Publikováno v:
Hematology Reports, Vol 6, Iss 2 (2014)
Colchicine is frequently used in the treatment of familial Mediterranean fever (FMF). First symptoms of colchicine intoxication are gastrointestinal disturbances, such as abdominal cramps, diarrhea, pancytopenia and so on. Herein, we report a female
Externí odkaz:
https://doaj.org/article/6edc100167284913832d76a734d9a5e6
Publikováno v:
International Journal of Contemporary Pediatrics. 10:621-626
Background: Acute myeloid leukemia (AML) is the second most common leukemia accounts for 20% of childhood leukemia. Intensive chemotherapy and hematopoietic stem cell transplantation (HSCT) improve outcomes. In this study, it was aimed to present the
Autor:
Michael A. Portman, Jeffrey P. Jacobs, Jane W. Newburger, Felix Berger, Michael A. Grosso, Anil Duggal, Ben Tao, Neil A. Goldenberg, Matthew Brothers, Bradley Marino, Charles Canter, Mark Law, Nguyenvu Nguyen, Charlie Sang, Kristin Shimano, Dipankar Gupta, Michael Portman, Derek Williams, Lauren Glass, Charles Sperrazza, Steven Herold, Ruchira Garg, Mark Vranicar, Sawsan Awad, Alfred Asante-Korang, Colleen Druzgal, Caroline Ozment, Kamill Del Toro, Ferran Roses, Christian Jux, Verena Gravenhorst, Ulrich Schweigmann, Mihir Bhatt, Christine Sabapathy, Nagib Dahdah, Dototea Bartonicek, Gerald Tulzer, Elena Basargina, Tatiana Zvereva, Tatiana Pertels, Irina Plotnikova, S.E.G.U.E.L.A. Pierre-Emmanuel, Pascal Amedro, Dulac Yves, Damien BONNET, Paola Saraco, Alessandro Rimini, Valerii Digtiar, Margaryta Gonchar, Tetyana Kryuchko, Olga Yablon, Varinder Singh Bedi, Jashvant Patel, Monjori Mitra, Jacek Kusa, Kowalczyk Domagala, László KÖRNYEI, Csaba BERECZKI, László ABLONCZY, Vivianne Aviva Levitas, David Mishali, Shoshana Revel-Vilk, Dan Harlev, Hatice Ilgen Sasmaz, Namik Yasar Ozbek, Sule Unal, Türkan Patıroglu, Baris Malbora, Hasan Agin, Zeynep Karakas, Ramazan Kaan Kavakli, Elizabeth Chalmers, Frances Bu'Lock, Piers Daubeney, Hala Hamza, Mohamed Badr, Mohsen Elalfy, Ahmed Mansour, Hoda Hassab, Ayman Sabry, Linda Daou, Fadi Bitar
Publikováno v:
Journal of the American College of Cardiology. 80:2301-2310
Standard of care (SOC) anticoagulation for thromboembolism (TE) prevention in children with cardiac disease includes low molecular weight heparins or vitamin K antagonists. Limited data exists for alternate use of direct oral anticoagulants in childr
Autor:
CEYHUN BOZKURT, Volkan Hazar, Baris Malbora, Alphan Küpesiz, Utku Aygüneş, Tunc Fısgın, Musa Karakükçü, Baris Kuskonmaz, Suar Çakı Kilic, Derya Bayırlı, Özlem Arman Bilir, Koray Yalcin, Salih Gözmen, Vedat Uygun, Murat Elli, Hakan Sarbay, Funda Küpesiz, Hatice İlgen Şaşmaz, Basak Aksoy, Ebru Yılmaz, Fatma Okur, Funda Tekkeşin, Fatma Demir Yenigürbüz, Gülcihan Ozek, Avni Atay, İkbal Ok Bozkaya, Suna Çelen, Seda Ozturkmen, Adalet Gunes, Orhan Gursel, Elif Guler, Alper Özcan, Duygu Uçkan, Selime Aydogdu, Namık Yaşar Özbek, Gulsun Karasu, Gulay Sezgin, Omer Dogru, Davut Albayrak, Gülyüz Öztürk, Serap Aksoylar, Hayriye Daloglu, Işık Odaman Al, Melike Sezgin Evim, Sinan Akbayram, Yurday Öncül, Emine Zengin, Canan Albayrak, Timur Cetin, Yeter Düzenli Kar, Hasan Fatih Çakmaklı, Özlem Tüfekçi, Ersin Toret, Bulent Antmen
Background: Data on the outcome and risk factors of pediatric patients with SARS-CoV-2 infection (COVID-19) following hematopoietic stem cell transplantation (HSCT) are limited. Objectives: We aimed to describe risk factors for a severe course and mo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6332337a3ba9bec11744dfa39f371744
https://doi.org/10.22541/au.168197609.90571507/v1
https://doi.org/10.22541/au.168197609.90571507/v1