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Novel AGL mutation in a Turkish patient with glycogen storage disease type IIIa.
Published in:
Pediatrics International, 2010, v. 52, n. 1, p. 145, doi. 10.1111/j.1442-200X.2009.02943.x
By:
- Aoyama, Yoshiko;
- Endo, Yoriko;
- Ebara, Tetsu;
- Murase, Toshio;
- Shin, Yoon S.;
- Podskarbi, Teodor;
- Ozer, Isil;
- Demirkol, Mübeccel;
- Gökçay, Gülden;
- Okubo, Minoru
Publication type:
Article
Management of adult patients with phenylketonuria: survey results from 24 countries.
Published in:
European Journal of Pediatrics, 2015, v. 174, n. 1, p. 119, doi. 10.1007/s00431-014-2458-4
By:
- Trefz, Friedrich;
- Spronsen, Francjan;
- MacDonald, Anita;
- Feillet, François;
- Muntau, Ania;
- Belanger-Quintana, Amaya;
- Burlina, Alberto;
- Demirkol, Mübeccel;
- Giovannini, Marcello;
- Gasteyger, Christoph
Publication type:
Article
Sitopeni Etiyolojisinde Doğumsal Metabolik Hastalıklar.
Published in:
Journal of the Child / Çocuk Dergisi, 2012, v. 12, n. 3, p. 113, doi. 10.5222/j .child.2012.113
By:
- ERSOY, Melike;
- GÖKÇAY, Gülden;
- DEMİRKOL, Mübeccel
Publication type:
Article
Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE).
Published in:
Human Genetics, 2000, v. 107, n. 6, p. 546, doi. 10.1007/s004390000407
By:
- Romstad, Anne;
- Kalkano&gcaron;lu, H. Serap;
- Coşkun, Turgay;
- Demirkol, Mübeccel;
- Tokatli, Aysegül;
- Dursun, Ali;
- Baykal, Tolunay;
- Özalp, Imran;
- Guldberg, Per;
- Güttler, Flemming
Publication type:
Article
OKULDA KONTROLLÜ KAHVALTI UYGULAMASI İLE SAĞLIKLI BESLENME BECERİLERİNİN GELİŞTİRİLMESİ.
Published in:
International Peer-Reviewed Journal of Nutrition Research, 2015, n. 4, p. 20, doi. 10.17362/dbhad.2015412527
By:
- SORMAZ, Ümit;
- DEMİRKOL, Mübeccel
Publication type:
Article
Molecular genetics of maple syrup urine disease in the Turkish population.
Published in:
Turkish Journal of Pediatrics, 2009, v. 51, n. 2, p. 97
By:
- Gorzelany, Kerstin;
- Dursun, Ali;
- Coşkun, Turgay;
- Kalkanoğlu-Sivri, Serap H.;
- Gökçay, Gü lden Fatma;
- Demirkol, Mübeccel;
- Feyen, Oliver;
- Wendel, Udo
Publication type:
Article
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 115, doi. 10.1007/s10545-015-9860-6
By:
- Huemer, Martina;
- Mulder-Bleile, Regina;
- Burda, Patricie;
- Froese, D.;
- Suormala, Terttu;
- Zeev, Bruria;
- Chinnery, Patrick;
- Dionisi-Vici, Carlo;
- Dobbelaere, Dries;
- Gökcay, Gülden;
- Demirkol, Mübeccel;
- Häberle, Johannes;
- Lossos, Alexander;
- Mengel, Eugen;
- Morris, Andrew;
- Niezen-Koning, Klary;
- Plecko, Barbara;
- Parini, Rossella;
- Rokicki, Dariusz;
- Schiff, Manuel
Publication type:
Article
Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients.
Published in:
Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 763, doi. 10.1007/s10545-014-9676-9
By:
- Garbade, Sven;
- Greenberg, Cheryl;
- Demirkol, Mübeccel;
- Gökçay, Gülden;
- Ribes, Antonia;
- Campistol, Jaume;
- Burlina, Alberto;
- Burgard, Peter;
- Kölker, Stefan
Publication type:
Article
Fine Mapping of the Human Biotinidase Gene and Haplotype Analysis of Five Common Mutations.
Published in:
Human Heredity, 2000, v. 50, n. 2, p. 102, doi. 10.1159/000022897
By:
- Blanton, Susan Halloran;
- Pandya, Arti;
- Landa, Barbara L.;
- Javaheri, Razieh;
- Xia, Xia-Juan;
- Nance, Walter E.;
- Pomponio, Robert J.;
- Norrgard, Karen J.;
- Swango, Katie L.;
- Demirkol, Mübeccel;
- Gülden, Hüner;
- Coskun, Turgay;
- Tokatli, Aysegül;
- Ozalp, Imran;
- Wolf, Barry
Publication type:
Article

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