Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Turgay, Coskun"'
Autor:
Yagmur Unsal, Murat Yurdakok, Sule Yigit, Hasan Tolga Celik, Ali Dursun, Hatice Serap Sivri, Aysegul Tokatli, Turgay Coskun
Publikováno v:
Journal of pediatric endocrinologymetabolism : JPEMReferences. 35(11)
Objectives Neonatal-onset organic acidemias (OAs) account for 80% of neonatal intensive care unit (NICU) admissions due to inborn errors of metabolism. The aim of this study is to analyze clinical features and follow-up of neonates diagnosed with OAs
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 182(7)
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (mHS) deficiency is a very rare autosomal recessive inborn error of ketone body synthesis and presents with hypoketotic hypoglycemia, metabolic acidosis, lethargy, encephalopathy, and hepatomegaly
Autor:
Rosanne, Sprute, Didem, Ardicli, Kader Karli, Oguz, Anna, Malenica-Mandel, Hülya-Sevcan, Daimagüler, Anne, Koy, Turgay, Coskun, Haicui, Wang, Meral, Topcu, Sebahattin, Cirak
Publikováno v:
Human Genome Variation
Asparagine synthetase deficiency (ASNSD, OMIM #615574) is a rare autosomal recessive neurometabolic inborn error that leads to severe cognitive impairment. It manifests with microcephaly, intractable seizures, and progressive cerebral atrophy. Curren
In this study, we show the effect of time delay of coolant fluid flow into a vascularized plate on the peak temperature. Coolant flows along vascular channels which were embedded in a rectangular plate. Two kinds of vascular channel designs were inve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d73cbb3eba16441c8c7bfa5974c0760
https://hdl.handle.net/11147/10055
https://hdl.handle.net/11147/10055
Publikováno v:
The Turkish journal of pediatrics. 56(4)
Fucosidosis is a rare autosomal recessive lysosomal storage disorder in which fucose-containing glycolipids, glycoproteins and oligosaccharides accumulate in tissues, as a result of a deficiency of α-L-fucosidase. In this report we describe clinical
Autor:
Ayşegul Zenciroğlu, Nihal Demirel, Cumhur Aydemir, Muhtesem Agτldere, Serap Kalkanoglu, Turgay Coskun
Publikováno v:
Journal of Child Neurology. 20:533-535
Glycine encephalopathy is a rare autosomal recessive metabolic disease characterized by glycine accumulation in body fluids owing to a defect in the glycine cleavage system. There are several forms of glycine encephalopathy. In the classic or neonata
PubMed: 17048190 This study was planned to determine the blood carnitine levels of children aged 0-1 year in Kirikkale. Blood samples were taken on Guthrie cards and plasma free carnitine levels were analyzed by tandem mass specteometry. The mean fre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::977800ac8d73e328e6bead0febe76034
https://hdl.handle.net/20.500.12587/1901
https://hdl.handle.net/20.500.12587/1901
Publikováno v:
Indian pediatrics. 40(9)
An increased susceptibility to infections has been observed in some patients with phenylketonuria (PKU), which is not well known whether it is due to alterations of plasma essential amino acid concentrations or to some other factors.This study is des
Autor:
Hong-Zhi, Gao, Keiko, Kobayashi, Ayako, Tabata, Hideaki, Tsuge, Mikio, Iijima, Tomotsugu, Yasuda, H Serap, Kalkanoglu, Ali, Dursun, Aysegul, Tokatli, Turgay, Coskun, Friedrich K, Trefz, Daniela, Skladal, Hanna, Mandel, Joerg, Seidel, Soichi, Kodama, Seiko, Shirane, Takafumi, Ichida, Shigeru, Makino, Makoto, Yoshino, Jong-Hon, Kang, Masashi, Mizuguchi, Bruce A, Barshop, Shohei, Fuchinoue, Sara, Seneca, Susan, Zeesman, Ina, Knerr, Margarita, Rodés, Pornswan, Wasant, Ichiro, Yoshida, Linda, De Meirleir, Md, Abdul Jalil, Laila, Begum, Masahisa, Horiuchi, Nobuhiko, Katunuma, Shiro, Nakagawa, Takeyori, Saheki
Classical citrullinemia (CTLN1), a rare autosomal recessive disorder, is caused by mutations of the argininosuccinate synthetase (ASS) gene, localized on chromosome 9q34.1. ASS functions as a rate-limiting enzyme in the urea cycle. Previously, we ide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::db2902a15cc66e4aff867d91d23cca0e
https://biblio.vub.ac.be/vubir/identification-of-16-novel-mutations-in-the-argininosuccinate-synthetase-gene-and-genotypephenotype-correlation-in-38-classical-citrullinemia-patients(42724c61-41cf-4fb8-8ba0-c3d70cfac97a).html
https://biblio.vub.ac.be/vubir/identification-of-16-novel-mutations-in-the-argininosuccinate-synthetase-gene-and-genotypephenotype-correlation-in-38-classical-citrullinemia-patients(42724c61-41cf-4fb8-8ba0-c3d70cfac97a).html
Autor:
Ira T. Lott, Robert J. Pomponio, Imran Ozalp, E.Regula Baumgartner, Turgay Coskun, Jeanne Hymes, Aysegul Tokatli, Barry Wolf, Karen J. Norrgard, Terttu Suormala, Vincent Ramaekers
Publikováno v:
The Journal of pediatrics. 132(2)
Children with biotinidase deficiency usually exhibit symptoms at several months to years of age. We describe four children who had symptoms later in childhood or during adolescence; they had motor limb weakness, spastic paresis, and eye problems, suc