Zobrazeno 1 - 10
of 116
pro vyhledávání: '"Neslihan Önenli-Mungan"'
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:
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:
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
Autor:
Deniz Kor, Fatma Derya Bulut, Sebile Kılavuz, Berna Şeker Yılmaz, Burcu Köşeci, Esra Kara, Ömer Kaya, Sibel Başaran, Gülşah Seydaoğlu, Neslihan Önenli Mungan
Publikováno v:
Journal of Bone and Mineral Metabolism. 40:498-507
This study aimed to evaluate the relationship between clinical findings, height and weight standard deviation scores, 25-hydroxyvitamin D25(OH)DIn total, 67.5% patients had a short stature, and 50% of them were underweight for their age. Of the patie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4db3f5c31aa47618ee6a9bf1cb9a24f2
https://doi.org/10.1007/s00774-021-01304-4
https://doi.org/10.1007/s00774-021-01304-4
Autor:
Tuğçe Kartal, Fatma Derya Bulut, Deniz Kor, Burcu Köşeci, Can Celiloğlu, Esra Kara, Semine Özdemir Dilek, Bilgin Yüksel, Neslihan Önenli Mungan
Publikováno v:
Journal of Nutrition and Dietetics. 49:115-120
Herediter tirozinemi tip-1 (HT1), fumarilasetoasetat hidrolaz enzim eksikliğine bağlı, nadir görülen hepatorenal bir kalıtsal metabolik hastalıktır. Herediter tirozinemi tip-1 yönetiminde, tirozin ve fenilalaninden kısıtlı diyetle birlikt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::89c301ee7e6f0c5a0f69b3b3621d9b8f
https://doi.org/10.33076/2021.bdd.1546
https://doi.org/10.33076/2021.bdd.1546
Autor:
Fatma Derya Bulut, Deniz Kor, Sebile Kılavuz, Berna Şeker Yılmaz, İrem Kaplan, Faruk Ekinci, Ezgi Burgaç, İlknur Varol, Burcu Köşeci, Sevcan Tuğ Bozdoğan, Esra Kara, Fadli Demir, Ali Deniz, Fatih Temiz, Neslihan Önenli Mungan
Publikováno v:
European Journal of Medical Genetics. 66:104764
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b7a64b51dfaef1d32d632068f541505b
https://doi.org/10.1016/j.ejmg.2023.104764
https://doi.org/10.1016/j.ejmg.2023.104764
Publikováno v:
Liver International. 41:2433-2439
Biallelic mutations in neuroblastoma amplified sequence gene (NBAS) is a rare disease which is characterized by recurrent liver failure (RALF). We reported the novel mutations, clinical characteristics and long-term outcomes of 5 patients with novel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7343faaaabb8e1e98eed1e4c10e86ae7
https://doi.org/10.1111/liv.15038
https://doi.org/10.1111/liv.15038
Autor:
İlker Ünal, Bahriye Atmis, Sebile Kılavuz, Atil Bisgin, Neslihan Önenli Mungan, Derya Cevizli, Hatice Busra Fidan, Aysun Karabay Bayazit, Ali Anarat, Deniz Kor, Engin Melek, Gülfiliz Gönlüşen, Kivilcim Eren Erdogan
Publikováno v:
Journal of Nephrology. 35:831-840
Cystinosis is a lysosomal storage disease that affects many tissues. Its prognosis depends predominantly on kidney involvement. Cystinosis has three clinical forms: nephropathic infantile, nephropathic juvenile and non-nephropathic adult. Proximal tu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cee9585d0a468b77675c0fe96336afc5
https://doi.org/10.1007/s40620-021-01078-y
https://doi.org/10.1007/s40620-021-01078-y