Early diagnostic clues of mucolipidosis type II: Significance of radiological findings.

Autor: Burgac E; Pediatric Metabolism and Nutrition Department, Cukurova University, Adana, Turkey., Kaplan İ; Pediatric Metabolism and Nutrition Department, Cukurova University, Adana, Turkey., Köseci B; Pediatric Metabolism and Nutrition Department, Cukurova University, Adana, Turkey., Kara E; Pediatric Metabolism and Nutrition Department, Cukurova University, Adana, Turkey., Kor D; Pediatric Metabolism and Nutrition Department, Cukurova University, Adana, Turkey., Bulut FD; Pediatric Metabolism and Nutrition Department, Cukurova University, Adana, Turkey., Atmış A; Pediatric Cardiology Department, Cukurova University, Adana, Turkey., Pişkin F; Radiology Department, Cukurova University, Adana, Turkey., Tuğ Bozdoğan S; Medical Genetics Department, Cukurova University, Adana, Turkey., Urel Demir G; Pediatric Genetics Department, Hacettepe University, Ankara, Turkey., İncecik F; Pediatric Neurology Department, Cukurova University, Adana, Turkey., Önenli Mungan N; Pediatric Metabolism and Nutrition Department, Cukurova University, Adana, Turkey.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jun; Vol. 194 (6), pp. e63545. Date of Electronic Publication: 2024 Jan 24.

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.

The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS.

Autor: Kılavuz S; Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana, Turkey., Bulut D; Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana, Turkey., Kor D; Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana, Turkey., Şeker-Yılmaz B; Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Mersin University Faculty of Medicine, Mersin, Turkey., Özcan N; Division of Pediatric Neurology, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana, Turkey., Incecik F; Division of Pediatric Neurology, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana, Turkey., Onan B; Department of Radiology, Çukurova University Faculty of Medicine, Adana, Turkey., Ceylaner G; Department of Medical Genetics, Intergen Genetics Centre, Ankara, Turkey., Önenli-Mungan N; Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana, Turkey.

Publikováno v: Neuropediatrics [Neuropediatrics] 2021 Oct; Vol. 52 (5), pp. 358-369. Date of Electronic Publication: 2021 Feb 12.

X-linked adrenoleukodystrophy in a 6-year-old boy initially presenting with psychiatric symptoms

Autor: İncecik F, Mö, Hergüner, Mert G, Önenli-Mungan N, Ceylaner S, Kör D, Ş, Altunbaşak

Publikováno v: Europe PubMed Central

PubMedID: 26388597 X-linked adrenoleukodystrophy (ALD) leads to demyelination of the nervous system, adrenal insufficiency and accumulation of long-chain fatty acids. Most young patients with X-linked ALD develop seizures and progressive neurologic d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6ecbc2e721e59675fc6d6bf7d4eaf604
https://hdl.handle.net/20.500.12605/22732

Thyroid hormone levels and thei relationship to survival in children with bacterial sepsis and septic shock

Autor: Yildizdaş D., Önenli-Mungan N., Yapicioglu H., Topaloglu A.K., Sertdemir Y., Yüksel B.

PubMedID: 15526723 Objectives: Reported studies have showed alternations of thyroid hormones in critical illness mostly in adults and some in children. In this study, we aimed to measure thyroid hormone levels in children with sepsis and septic shock

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______9491::1f6e1cd6e0ed06a8302934862efcb5e8
https://hdl.handle.net/20.500.12605/22103