Zobrazeno 1 - 10
of 123
pro vyhledávání: '"Neslihan Önenli Mungan"'
Autor:
Abdurrahman Akgun, Gulden Gokcay, Neslihan Onenli Mungan, Hatice Serap Sivri, Hasan Tezer, Cigdem Aktuglu Zeybek, Fatih Ezgu
Publikováno v:
Frontiers in Public Health, Vol 11 (2023)
This expert-opinion-based document was prepared by a group of specialists in pediatric inherited metabolic diseases and infectious diseases including administrative board members of Turkish Society for Pediatric Nutrition and Metabolism to provide gu
Externí odkaz:
https://doaj.org/article/1910dd11ee834a16b3614b54a8b92b29
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
Publikováno v:
Balkan Medical Journal, Vol 33, Iss 3, Pp 370-372 (2016)
Background: Tyrosinemia type I is an autosomal recessively inherited metabolic disease of tyrosine metabolism due to the deficiency of fumarylacetoacetate hydrolase. Clinical manifestations include hepatic failure, cirrhosis, hepatocellular carcinoma
Externí odkaz:
https://doaj.org/article/4d0d1f177915459383c369ad25f93db9
Autor:
Neslihan Önenli MUNGAN, Fatih GÜRBÜZ, Eda MENGEN, Özden ÖZGÜR, Ali Kemal TOPALOĞLU, Bilgin YÜKSEL
Publikováno v:
Cukurova Medical Journal, Vol 39, Iss 3, Pp 532-539 (2014)
Amaç: Osteogenezis imperfekta bağ dokusunun kalıtsal bir hastalığıdır. Bu durumdaki çocuklar tekrarlayan kırıklar, deformiteler, osteoporosis ve ağrıdan yakınırlar. Son yıllarda pamidronat standart tedavi tercihi olmuştur. Ancak, opti
Externí odkaz:
https://doaj.org/article/a95555dd94a54947bf94673d3b37440a
Autor:
Neslihan Önenli MUNGAN, Fatih GÜRBÜZ, Eda MENGEN, Özden ÖZGÜR, Ali Kemal TOPALOGLU, Bilgin YÜKSEL
Publikováno v:
Cukurova Medical Journal, Vol 38, Iss 4, Pp 667-674 (2013)
Amaç: Bu çalışmanın temel amacı osteogenezis imperfekta olan çocuklarda klinik, biyokimyasal ve radyolojik bulgular ile pamidronat ve kalsitonin tedavisinin karşılaştırılması ve pamidronat tedavisinin etkinliğinin değerlendirilmesidir.
Externí odkaz:
https://doaj.org/article/e51780ec70c04c71ba6c303d170e1789
Publikováno v:
Cukurova Medical Journal, Vol 38, Iss 4, Pp 809-812 (2013)
Glutarik asidüri tip I glutaril KoA dehidrogenaz enziminin eksikliğine bağlı olarak gelişen ve otozomal resesif olarak kalıtılan bir metabolik hastalıktır. İnsidansı yaklaşık 1/ 100,000 dir. Glutaril KoA dehidrogenaz enziminin geni kromo
Externí odkaz:
https://doaj.org/article/208b8d4032844874acb758b0db49bfb8
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:
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