Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Fatma Derya BULUT"'
Autor:
Sema Kalkan Uçar, Havva Yazıcı, Ebru Canda, Esra Er, Fatma Derya Bulut, Cenk Eraslan, Hüseyin Onay, Bridget Elizabeth Bax, Mahmut Çoker
Publikováno v:
JIMD Reports, Vol 63, Iss 5, Pp 484-493 (2022)
Abstract Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive mitochondrial disorder characterized by cumulative and progressive gastrointestinal and neurological findings. This retrospective observational study, ai
Externí odkaz:
https://doaj.org/article/fa1e7a6b696a40c6a9e89adca314e9cc
Autor:
Berrak Bilginer Gürbüz, Habibe Koç Uçar, Fatma Derya Bulut, Esra Sarıgeçili, Bilge Sarıkepe, Özge Özalp Yüreğir
Publikováno v:
Cukurova Medical Journal, Vol 46, Iss 3, Pp 1201-1207 (2021)
Purpose: The aim of this study is to evaluate the diagnosis characteristics, clinic findings, phenotypical and genotypical features of children with GM2 gangliosidoses. Materials and Methods: The file records of 14 patients diagnosed with GM2 ganglio
Externí odkaz:
https://doaj.org/article/7256cc1934c44198ab0a2579d0443be4
Autor:
Sebile Kılavuz, Sibel Basaran, Deniz Kor, Fatma Derya Bulut, Sevcan Erdem, Hüseyin Tuğsan Ballı, Muhammed Dağkıran, Atil Bisgin, Halise Neslihan Önenli Mungan
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background This case series includes longitudinal clinical data of ten patients with Morquio A syndrome from south and southeastern parts of Turkey, which were retrospectively collected from medical records. All patients received enzyme repl
Externí odkaz:
https://doaj.org/article/f0ed69636eff43979816787b1fd5a6ee
Autor:
Fatma Derya Bulut, Semine Özdemir Dilek, Damla Kotan, Eda Mengen, Fatih Gürbüz, Bilgin Yüksel
Publikováno v:
JCRPE, Vol 12, Iss 3, Pp 261-268 (2020)
Objective:Mutations of the genes encoding transcription factors which play important roles in pituitary morphogenesis, differentiation and maturation may lead to combined pituitary hormone deficiency (CPHD). PROP1 gene mutations are reported as the m
Externí odkaz:
https://doaj.org/article/834c2557d203484c97842279ba83d755
Publikováno v:
Cukurova Medical Journal, Vol 45, Iss 2, Pp 401-407 (2020)
Amaç: Bu çalışmada farklı tiplerinde değişen oranlarda multisistemik tutuluma, nörolojik bulguların da eşlik ettiği mukopolisakkaridozlu hastalarda, serum vitamin B12 düzeylerinin de klinik seyir üzerine etkisi araştırılmıştır.Gere
Externí odkaz:
https://doaj.org/article/6b2f61fd9e28467394003eb071872daa
Autor:
Ayşe Hitay İnan, Berna Şeker Yılmaz, Fatma Derya Bulut, Sebile Kılavuz, Deniz Kor, Mehmet Karakaş, Halise Neslihan Önenli Mungan
Publikováno v:
Journal of Pediatric Research, Vol 8, Iss 2, Pp 206-208 (2021)
Mucopolysaccharidosis type-II (MPS-II) is an X-linked lysosomal storage disorder. Here, we report an 8-year-old boy with pebbling sign in the scapular region, coarse facies, claw hand, diastolic murmur, and hepatomegaly. With decreased iduronate-2-su
Externí odkaz:
https://doaj.org/article/292605ffe54e4b4b9c1d6cd967b776f1
Autor:
Sebile Kılavuz, Fatma Derya Bulut, Deniz Kör, Berna Şeker Yılmaz, Sibel Başaran, Tunay Sarpel, Neslihan Önenli Mungan
Publikováno v:
Journal of Pediatric Research, Vol 5, Iss 1, Pp 7-11 (2018)
Aim:Alkaptonuria (AKU) is an autosomal recessively inherited disease caused by a deficiency of homogentisate 1,2-dioxygenase. This enzyme converts homogentisic acid (HGA) into maleylacetoacetic acid in the tyrosine degradation pathway. The presence o
Externí odkaz:
https://doaj.org/article/e235d9d3729643718d71152d6a045a65
Autor:
Fatma Derya Bulut, Deniz Kör, Berna Şeker Yılmaz, Mustafa Yılmaz, Derya Ufuk Altıntaş, Serdar Ceylaner, Sebile Kılavuz, Neslihan Önenli Mungan
Publikováno v:
Journal of Pediatric Research, Vol 5, Iss 1, Pp 54-56 (2018)
Typical features of Netherton syndrome are congenital ichthyosiform erythroderma, atopic diathesis and trichorrhexis nodosa. Here in this report, we present a case with congenital ichthyosis with atopy presenting later. We wanted to discuss the impor
Externí odkaz:
https://doaj.org/article/68bba7beafc7468a82d7f42d4071799e
Autor:
Nefise Hilal Cansever Övetti, Halise Neslihan Önenli Mungan, Berna Şeker Yılmaz, Fatma Derya Bulut
Publikováno v:
Cukurova Medical Journal, Vol 43, Iss 2, Pp 500-501 (2018)
Bir Olgu Nedeni İle Hiperkarotenemi
Externí odkaz:
https://doaj.org/article/f86c5fb6c5f14c24bdfa6fee4858ea08
Autor:
Fatma Derya Bulut, Neslihan Ekşi Bozbulut, Özge Özalp, Buket Dalgiç, Neslihan Önenli Mungan, Habibe Koç Uçar, Gürsel Biberoğlu
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 35:681-685
Objectives Niemann–Pick disease type C (NPC) is a lysosomal storage disease due to impaired intracellular lipid trafficking caused by biallelic pathogenic variants in NPC1 or NPC2 genes. NPC is classified according to the age of onset of neurologic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13b99e46a0b3b6ac29e30655406c739c
https://doi.org/10.1515/jpem-2021-0580
https://doi.org/10.1515/jpem-2021-0580