Now showing items 1-5 of 5

    • A Novel Mutation In The Interleukin-1 Receptor Antagonist Associated With Intrauterine Disease Onset 

      Altiok, Ender; Aksoy, Figen; Perk, Yildiz; Taylan, Fulya; Kim, Peter W.; Ilikkan, Barbaros; Asal, Gulten Turkkani; Goldbach-Mansky, Raphaela; Sanal, Ozden (Academic Press Inc Elsevier Science, 2012)
      Deficiency of the IL-1 receptor antagonist (DIRA) is a recently described rare autoinflammatory disease, caused by loss of function mutations in IL1RN leading to the unopposed activation of the IL-1 pathway. We describe a ...
    • Clinical Heterogeneity And Diagnostic Delay Of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome 

      Mazza, Cinzia; Buzi, Fabio; Ortolani, Federica; Vitali, Alberto; Notarangelo, Lucia D.; Weber, Giovanna; Bacchetta, Rosa; Soresina, Annarosa; Lougaris, Vassilios; Greggio, Nella A.; Taddio, Andrea; Pasic, Srdjan; de Vroede, Monique; Pac, Malgorzata; Kilic, Sara Sebnem; Ozden, Sanal; Rusconi, Roberto; Martino, Silvana; Capalbo, Donatella; Salerno, Mariacarolina; Pignata, Claudio; Radetti, Giorgio; Maggiore, Giuseppe; Plebani, Alessandro; Notarangelo, Luigi D.; Badolato, Raffaele (Academic Press Inc Elsevier Science, 2011)
      Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive organ-specific autoimmune disorder that is characterized by a variable combination of (i) chronic mucocutaneous candidiasis, ...
    • Guanidinoacetate Methyltransferase (Gamt) Deficiency: Outcomes In 48 Individuals And Recommendations For Diagnosis, Treatment And Monitoring 

      Stockler-Ipsiroglu, Sylvia; van Karnebeek, Clara; Longo, Nicola; Korenke, G. Christoph; Mercimek-Mahmutoglu, Saadet; Marquart, Iris; Barshop, Bruce; Grolik, Christiane; Schlune, Andrea; Angle, Brad; Araujo, Helena Caldeira; Coskun, Turgay; Diogo, Luisa; Geraghty, Michael; Haliloglu, Goknur; Konstantopoulou, Vassiliki; Leuzzi, Vincenzo; Levtova, Alina; MacKenzie, Jennifer; Maranda, Bruno; Mhanni, Aizeddin A.; Mitchell, Grant; Morris, Andrew; Newlove, Theresa; Renaud, Deborah; Scaglia, Fernando; Valayannopoulos, Vassili; van Spronsen, Francjan J.; Verbruggen, Krijn T.; Yuskiv, Nataliya; Nyhan, William; Schulze, Andreas (Academic Press Inc Elsevier Science, 2014)
      We collected data on 48 patients from 38 families with guanidinoacetate methyltransferase (GAMT) deficiency. Global developmental delay/intellectual disability (DD/ID) with speech/language delay and behavioral problems as ...
    • Hematologically Important Mutations: Leukocyte Adhesion Deficiency (First Update) 

      van de Vijver, Edith; Maddalena, Anne; Sanal, Ozden; Holland, Steven M.; Uzel, Gulbu; Madkaikar, Manisha; de Boer, Martin; van Leeuwen, Karin; Koker, M. Yavuz; Parvaneh, Nima; Fischer, Alain; Law, S. K. Alex; Klein, Nigel; Tezcan, F. Ilhan; Unal, Ekrem; Patiroglu, Turkan; Belohradsky, Bernd H.; Schwartz, Klaus; Somech, Raz; Kuijpers, Taco W.; Roos, Dirk (Academic Press Inc Elsevier Science, 2012)
      Leukocyte adhesion deficiency (LAD) is an immunodeficiency caused by defects in the adhesion of leukocytes (especially neutrophils) to the blood vessel wall. As a result, patients with LAD suffer from severe bacterial ...
    • Temporal Lobe Epilepsy Is A Predisposing Factor For Sleep Apnea: A Questionnaire Study In Video-Eeg Monitoring Unit 

      Yildiz, F. Gokcem; Tezer, F. Irsel; Saygi, Serap (Academic Press Inc Elsevier Science, 2015)
      Objective: The interaction between epilepsy and sleep is known. It has been shown that patients with epilepsy have more sleep problems than the general population. However, there is no recent study that compares the frequency ...