Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Deniz KÖR"'
Autor:
Damla Gökşen, Ediz Yeşilkaya, Samim Özen, Yılmaz Kor, Erdal Eren, Özlem Korkmaz, Merih Berberoğlu, Gülay Karagüzel, Eren Er, Ayhan Abacı, Olcay Evliyaoğlu, Emine Demet Akbaş, Edip Ünal, Semih Bolu, Özlem Nalbantoğlu, Ahmet Anık, Meltem Tayfun, Muammer Büyükinan, Saygın Abalı, Gülay Can Yılmaz, Deniz Kör, Elif Söbü, Zeynep Şıklar, Recep Polat, Şükran Darcan
Publikováno v:
JCRPE, Vol 13, Iss 4, Pp 433-438 (2021)
Objective:Monogenic diabetes is a heterogeneous disease that causes functional problems in pancreatic beta cells and hyperglycemia. The aim of this study was to determine the clinical and laboratory features, the admission characteristics and distrib
Externí odkaz:
https://doaj.org/article/d246cab85ec94663b4edadd4a7d45387
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
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:
Faruk İNCECİK, Neslihan MUNGAN, Özlem Mihriban Hergüner, Deniz KÖR, Berna ŞEKER, Sakir Altunbasak
Publikováno v:
Cukurova Medical Journal, Vol 39, Iss 4, p 0 (2014)
L-2-hidroksiglutarik asidüri nadir rastlanan, otozomal resesif geçişli, metabolik bir hastalıktır. Hastalık zihinsel engellilik, ataksi, ekstrapiramidal bulgular ve nöbetler ile gider. Tanısı kranial manyetik rezonans görüntüleme ve idrar
Externí odkaz:
https://doaj.org/article/b89027cf0c4f470a8924d2fb91956913
Autor:
Faruk, İncecik, M Özlem, Hergüner, Gülen, Mert, Neslihan, Önenli-Mungan, Serdar, Ceylaner, Deniz, Kör, Şakir, Altunbaşak
Publikováno v:
The Turkish journal of pediatrics. 56(6)
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 deficits, and die wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::be68408916a9ed6715c50a7c23ca43b6
https://pubmed.ncbi.nlm.nih.gov/26388597
https://pubmed.ncbi.nlm.nih.gov/26388597
Publikováno v:
Web of Science
Apocrine chromhidrosis is a very rare, idiopathic disorder of the sweat glands characterized by the secretion of colored sweat. Because hormonal induction increases sweating, the symptoms of apocrine chromhidrosis usually begin after puberty. Althoug
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::49e0bfab53b3f5f5d2558e0b9d0f5432
https://hdl.handle.net/20.500.12605/4987
https://hdl.handle.net/20.500.12605/4987
Publikováno v:
Türk Nöroloji Dergisi, Vol 28, Iss 3, Pp 197-199 (2022)
Externí odkaz:
https://doaj.org/article/aa1ca3bd92694e75911381b6ae9d2240
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://explore.openaire.eu/search/publication?articleId=od______9491::881e2dc2201818aa43dbe3b2184b5a48
https://hdl.handle.net/20.500.12605/1847
https://hdl.handle.net/20.500.12605/1847