Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals.

Autor: Zubarioglu T; İstanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Division of Pediatric Nutrition and Metabolism, İstanbul, Turkey. Electronic address: tanyel.zubarioglu@iuc.edu.tr., Kıykım E; İstanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Division of Pediatric Nutrition and Metabolism, İstanbul, Turkey., Köse E; Ankara University, Faculty of Medicine, Department of Pediatric Metabolism, Ankara, Turkey; Ankara University Rare Diseases Application and Research Center, Ankara, Turkey., Eminoğlu FT; Ankara University, Faculty of Medicine, Department of Pediatric Metabolism, Ankara, Turkey; Ankara University Rare Diseases Application and Research Center, Ankara, Turkey., Teke Kısa P; Dokuz Eylul University Medical Faculty, Division of Pediatric Nutrition and Metabolism, Izmir, Turkey., Balcı MC; Istanbul University, Istanbul Medical Faculty Children's Hospital, Division of Nutrition and Metabolism, Istanbul, Turkey., Özer I; Ondokuz Mayıs University, Faculty of Medicine, Department of Pediatric Metabolism, Samsun, Turkey; Kafkas University, Division of Pediatric Nutrition and Metabolism, Kars, Turkey., İnci A; Gazi University School of Medicine, Division of Pediatric Nutrition and Metabolism, Ankara, Turkey., Çilesiz K; Gazi University School of Medicine, Division of Pediatric Nutrition and Metabolism, Ankara, Turkey., Canda E; Ege University Medical Faculty, Division of Pediatric Nutrition and Metabolism, İzmir, Turkey., Yazıcı H; Ege University Medical Faculty, Division of Pediatric Nutrition and Metabolism, İzmir, Turkey., Öztürk-Hişmi B; Marmara University School of Medicine, Division of Pediatric Metabolic Disorders, İstanbul, Turkey., Bulut FD; Cukurova University Medical Faculty, Division of Pediatric Metabolism and Nutrition, Adana, Turkey., Dorum S; Health Sciences University, Bursa Yuksek Ihtisas Training and Research Hospital, Division of Pediatric Nutrition and Metabolism, Bursa, Turkey., Akgun A; Firat University, School of Medicine, Department of Pediatrics, Division of Pediatric Metabolic Diseases, Elazığ, Turkey., Yalçın-Çakmaklı G; Hacettepe University Faculty of Medicine, Department of Neurology, Ankara, Turkey., Kılıç-Yıldırım G; Eskisehir Osmangazi University, Faculty of Medicine, Pediatric Nutrition and Metabolism Unit, Eskişehir, Turkey., Soyuçen E; Akdeniz University Faculty of Medicine, Department of Pediatrics, Division of Inherited Pediatric Metabolic Diseases, Antalya, Turkey., Akçalı A; Gaziantep University Faculty of Medicine, Department of Neurology, Gaziantep, Turkey., Güneş D; Bağcılar Training and Research Hospital, Division of Inborn Metabolic Disease, İstanbul, Turkey., Durmuş A; Kanuni Training and Research Hospital, Division of Pediatric Metabolism, Trabzon, Turkey., Gündüz A; İstanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Department of Neurology, İstanbul, Turkey., Kasapkara ÇS; Ankara Yıldırım Beyazıt University, Ankara Bilkent City Hospital, Department of Pediatric Metabolism, Ankara, Turkey., Göksoy E; Adnan Menderes University Medical Faculty, Division of Pediatric Metabolism, Aydın, Turkey., Akar HT; Ankara Etlik City Hospital, Pediatric Metabolic Diseases Unit, Ankara, Turkey., Ersoy M; Health Sciences University, Bakirkoy Dr. Sadi Konuk Training and Research Hospital, Department of Pediatrics, Division of Pediatric Metabolic Diseases, İstanbul, Turkey., Erdöl Ş; Bursa Uludag University Faculty of Medicine, Department of Pediatrics, Division of Metabolism, Bursa, Turkey., Yıldız Y; Hacettepe University, Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism, Ankara, Turkey., Hanağası HA; Istanbul Faculty of Medicine, Department of Neurology, İstanbul, Turkey., Arslan N; Dokuz Eylul University Medical Faculty, Division of Pediatric Nutrition and Metabolism, Izmir, Turkey., Aktuğlu-Zeybek Ç; İstanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Division of Pediatric Nutrition and Metabolism, İstanbul, Turkey.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2024 Jun; Vol. 142 (2), pp. 108493. Date of Electronic Publication: 2024 May 13.

Clinical spectrum of early onset 'Mediterranean' (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy

Autor: Kalkan Uçar, S, Yazıcı, H, Canda, E, Er, E, Bulut, FD, Eraslan, C, Onay, H, Bax, BE, Çoker, M

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive mitochondrial disorder characterized by cumulative and progressive gastrointestinal and neurological findings. This retrospective observational study, aimed to ex

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::4fe670540915ff4673c0466f549e9c9e

Perspectives of adult patients with lysosomal storage diseases on the transition from pediatric to adult healthcare in Turkey.

Autor: Bulut FD; Çukurova University, Pediatric Metabolism and Nutrition Department, Adana, Turkey. Electronic address: deryaozduran@yahoo.com., Seydaoğlu G; Çukurova University, Biostatistics Department, Adana, Turkey., Kor D; Çukurova University, Pediatric Metabolism and Nutrition Department, Adana, Turkey., Kılavuz S; Başakşehir Çam ve Sakura City Research and Education Hospital, Pediatric Metabolism Department, İstanbul, Turkey., Boz A; Çukurova University, Biostatistics Department, Adana, Turkey., Önenli Mungan N; Çukurova University, Pediatric Metabolism and Nutrition Department, Adana, Turkey.

Publikováno v: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie [Arch Pediatr] 2023 Oct; Vol. 30 (7), pp. 450-454. Date of Electronic Publication: 2023 Jun 17.

Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis.

Autor: Bulut FD; Çukurova University, Pediatric Metabolism and Nutrition Department, Adana, Turkey. Electronic address: deryaozduran@yahoo.com., Kor D; Çukurova University, Pediatric Metabolism and Nutrition Department, Adana, Turkey., Kılavuz S; Başakşehir Çam ve Sakura City Research and Education Hospital, Pediatric Metabolism Department, İstanbul, Turkey., Şeker Yılmaz B; University College London, Genetics and Genomics Medicine, Institute of Child Health London, UK., Kaplan İ; Çukurova University, Pediatric Metabolism and Nutrition Department, Adana, Turkey., Ekinci F; Çukurova University, Pediatric Intensive Care Department, Adana, Turkey., Burgaç E; Çukurova University, Pediatric Metabolism and Nutrition Department, Adana, Turkey., Varol İ; İnönü University, Pediatric Gastroenterology and Hepatology Department, Malatya, Turkey., Köşeci B; Çukurova University, Pediatric Metabolism and Nutrition Department, Adana, Turkey., Tuğ Bozdoğan S; Çukurova University, Medical Genetics Department, Adana, Turkey., Kara E; Çukurova University, Pediatric Metabolism and Nutrition Department, Adana, Turkey., Demir F; Çukurova University, Pediatric Cardiology Department, Adana, Turkey., Deniz A; Çukurova University, Cardiology Department, Adana, Turkey., Temiz F; Sütçü İmam University, Pediatric Endocrinology Department, Kahramanmaraş, Turkey., Önenli Mungan N; Çukurova University, Pediatric Metabolism and Nutrition Department, Adana, Turkey.

Publikováno v: European journal of medical genetics [Eur J Med Genet] 2023 Jun; Vol. 66 (6), pp. 104764. Date of Electronic Publication: 2023 Apr 13.

Clinical spectrum of early onset "Mediterranean" (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy.

Autor: Kalkan Uçar S; Department of Pediatrics, Division of Metabolism and Nutrition Ege University Medical Faculty Izmir Turkey., Yazıcı H; Department of Pediatrics, Division of Metabolism and Nutrition Ege University Medical Faculty Izmir Turkey., Canda E; Department of Pediatrics, Division of Metabolism and Nutrition Ege University Medical Faculty Izmir Turkey., Er E; Department of Pediatrics, Division of Metabolism and Nutrition Ege University Medical Faculty Izmir Turkey., Bulut FD; Department of Pediatrics, Division of Metabolism and Nutrition Çukurova University Medical Faculty Adana Turkey., Eraslan C; Department of Radiology, Division of Neuroradiology Ege University Medical Faculty Bornova Turkey., Onay H; Department of Genetics Ege University Medical Faculty Izmir Turkey., Bax BE; Institute of Molecular and Clinical Sciences St George's University of London London UK., Çoker M; Department of Pediatrics, Division of Metabolism and Nutrition Ege University Medical Faculty Izmir Turkey.

Publikováno v: JIMD reports [JIMD Rep] 2022 Jul 10; Vol. 63 (5), pp. 484-493. Date of Electronic Publication: 2022 Jul 10 (Print Publication: 2022).