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	1.	Adult phenotype and further phenotypic variability in SRD5A3-CDG. [electronic resource] by Kara, Bülent Ayhan, Özgecan Gökçay, Gülden Başboğaoğlu, Nurdan Tolun, Aslıhan Producer: 20140319 In: BMC medical genetics vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Rapid Desensitization for Immediate Hypersensitivity to Galsulfase Therapy in Patients with MPS VI. [electronic resource] by Tamay, Zeynep Gokcay, Gulden Dilek, Fatih Balci, Mehmet Cihan Ozceker, Deniz Demirkol, Mubeccel Guler, Nermin Publication details: JIMD reports 2016 In: JIMD reports vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Prediction of premature atherosclerosis by endothelial dysfunction and increased intima-media thickness in glycogen storage disease types Ia and III. [electronic resource] by Yekeler, Ensar Dursun, Memduh Emeksiz, Eda Akkoyunlu, Murat Akyol, Yakup Demir, Fikri Gökcay, Gülden Demirkol, Mübeccel Producer: 20071120 In: The Turkish journal of pediatrics vol. 49 Availability: No items available. Save to lists Add to cart (remove)
	4.	Monitoring tyrosinaemia type I: Blood spot test for nitisinone (NTBC). [electronic resource] by Sander, Johannes Janzen, Nils Terhardt, Michael Sander, Stefanie Gökcay, Gülden Demirkol, Mübeccel Ozer, Isıl Peter, Michael Das, Anibh M Producer: 20110310 In: Clinica chimica acta; international journal of clinical chemistry vol. 412 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Towards newborn screening for ornithine transcarbamylase deficiency: fast non-chromatographic orotic acid quantification from dried blood spots by tandem mass spectrometry. [electronic resource] by Janzen, Nils Terhardt, Michael Sander, Stefanie Demirkol, Mübeccel Gökçay, Gülden Peter, Michael Lücke, Thomas Sander, Johannes Das, Anibh M Producer: 20150309 In: Clinica chimica acta; international journal of clinical chemistry vol. 430 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Molecular genetics of maple syrup urine disease in the Turkish population. [electronic resource] by Gorzelany, Kerstin Dursun, Ali Coşkun, Turgay Kalkanoğlu-Sivri, Serap H Gökçay, Gülden Fatma Demirkol, Mübeccel Feyen, Oliver Wendel, Udo Producer: 20090625 In: The Turkish journal of pediatrics vol. 51 Availability: No items available. Save to lists Add to cart (remove)
	7.	Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations. [electronic resource] by Aoyama, Yoshiko Ozer, Isil Demirkol, Mubeccel Ebara, Tetsu Murase, Toshio Podskarbi, Teodor Shin, Yoon S Gokcay, Gulden Okubo, Minoru Producer: 20100224 In: Journal of human genetics vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Novel AGL mutation in a Turkish patient with glycogen storage disease type IIIa. [electronic resource] by Aoyama, Yoshiko Endo, Yoriko Ebara, Tetsu Murase, Toshio Shin, Yoon S Podskarbi, Teodor Ozer, Isil Demirkol, Mübeccel Gökçay, Gülden Okubo, Minoru Producer: 20100517 In: Pediatrics international : official journal of the Japan Pediatric Society vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients. [electronic resource] by Garbade, Sven F Greenberg, Cheryl R Demirkol, Mübeccel Gökçay, Gülden Ribes, Antonia Campistol, Jaume Burlina, Alberto B Burgard, Peter Kölker, Stefan Producer: 20150515 In: Journal of inherited metabolic disease vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population. [electronic resource] by Dobrowolski, Steven F Heintz, Caroline Miller, Trent Ellingson, Clinton Ellingson, Clifford Ozer, Işıl Gökçay, Gulden Baykal, Tolunay Thöny, Beat Demirkol, Mübeccel Blau, Nenad Producer: 20111024 In: Molecular genetics and metabolism vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Measurement of serum vitamin B12-related metabolites in newborns: implications for new cutoff values to detect B12 deficiency. [electronic resource] by Yetim, Aylin Aygün, Erhan Yetim, Çağcıl Ucar, Ahmet Karakaş, Zeynep Gökçay, Gülden Demirkol, Mübeccel Ömer, Beyhan Gökçay, Gülbin Baş, Firdevs Erginöz, Ethem Dağoğlu, Türkan Producer: 20210617 In: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype. [electronic resource] by Yuruk Yildirim, Zeynep Toksoy, Guven Uyguner, Oya Nayir, Ahmet Yavuz, Sevgi Altunoglu, Umut Turkkan, Ozde Nisa Sevinc, Burcu Gokcay, Gulden Kurkcu Gunes, Dilek Kiyak, Aysel Yilmaz, Alev Producer: 20200930 In: European journal of medical genetics vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Determinants of Plasma Docosahexaenoic Acid Levels and Their Relationship to Neurological and Cognitive Functions in PKU Patients: A Double Blind Randomized Supplementation Study. [electronic resource] by Demmelmair, Hans MacDonald, Anita Kotzaeridou, Urania Burgard, Peter Gonzalez-Lamuno, Domingo Verduci, Elvira Ersoy, Melike Gokcay, Gulden Alyanak, Behiye Reischl, Eva Müller-Felber, Wolfgang Faber, Fabienne Lara Handel, Uschi Paci, Sabrina Koletzko, Berthold Producer: 20190222 In: Nutrients vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Biotinidase deficiency: novel mutations and their biochemical and clinical correlates. [electronic resource] by Wolf, Barry Jensen, Kevin P Barshop, Bruce Blitzer, Miriam Carlson, Martha Goudie, David R Gokcay, Gulden Huner Demirkol, Mubeccel Baykal, Tolunay Demir, F Quary, Sharon Shih, Ling Yu Pedro, Helio F Chen, Tsui-Hua H Slonim, Alfred E Producer: 20060717 In: Human mutation vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Key features and clinical variability of COG6-CDG. [electronic resource] by Rymen, Daisy Winter, Julia Van Hasselt, Peter M Jaeken, Jaak Kasapkara, Cigdem Gokçay, Gulden Haijes, Hanneke Goyens, Philippe Tokatli, Aysegul Thiel, Christian Bartsch, Oliver Hecht, Jochen Krawitz, Peter Prinsen, Hubertus C M T Mildenberger, Eva Matthijs, Gert Kornak, Uwe Producer: 20160829 In: Molecular genetics and metabolism vol. 116 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3. [electronic resource] by Ferdinandusse, Sacha Jimenez-Sanchez, Gerardo Koster, Janet Denis, Simone Van Roermund, Carlo W Silva-Zolezzi, Irma Moser, Ann B Visser, Wouter F Gulluoglu, Mine Durmaz, Ozlem Demirkol, Mubeccel Waterham, Hans R Gökcay, Gülden Wanders, Ronald J A Valle, David Producer: 20150923 In: Human molecular genetics vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency. [electronic resource] by Grünert, Sarah Catharina Schmitt, Robert Niklas Schlatter, Sonja Marina Gemperle-Britschgi, Corinne Balcı, Mehmet Cihan Berg, Volker Çoker, Mahmut Das, Anibh M Demirkol, Mübeccel Derks, Terry G J Gökçay, Gülden Uçar, Sema Kalkan Konstantopoulou, Vassiliki Christoph Korenke, G Lotz-Havla, Amelie Sophia Schlune, Andrea Staufner, Christian Tran, Christel Visser, Gepke Schwab, Karl Otfried Fukao, Toshiyuki Sass, Jörn Oliver Producer: 20180518 In: Molecular genetics and metabolism vol. 122 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients. [electronic resource] by Grünert, Sarah Catharina Schlatter, Sonja Marina Schmitt, Robert Niklas Gemperle-Britschgi, Corinne Mrázová, Lenka Balcı, Mehmet Cihan Bischof, Felix Çoker, Mahmut Das, Anibh M Demirkol, Mübeccel de Vries, Maaike Gökçay, Gülden Häberle, Johannes Uçar, Sema Kalkan Lotz-Havla, Amelie Sophia Lücke, Thomas Roland, Dominique Rutsch, Frank Santer, René Schlune, Andrea Staufner, Christian Schwab, Karl Otfried Mitchell, Grant A Sass, Jörn Oliver Producer: 20180319 In: Molecular genetics and metabolism vol. 121 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Clinical presentation and outcome in a series of 88 patients with the cblC defect. [electronic resource] by Fischer, Sabine Huemer, Martina Baumgartner, Matthias Deodato, Federica Ballhausen, Diana Boneh, Avihu Burlina, Alberto B Cerone, Roberto Garcia, Paula Gökçay, Gülden Grünewald, Stephanie Häberle, Johannes Jaeken, Jaak Ketteridge, David Lindner, Martin Mandel, Hanna Martinelli, Diego Martins, Esmeralda G Schwab, Karl O Gruenert, Sarah C Schwahn, Bernd C Sztriha, László Tomaske, Maren Trefz, Friedrich Vilarinho, Laura Rosenblatt, David S Fowler, Brian Dionisi-Vici, Carlo Producer: 20150515 In: Journal of inherited metabolic disease vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice. [electronic resource] by Mayorandan, Sebene Meyer, Uta Gokcay, Gülden Segarra, Nuria Garcia de Baulny, Hélène Ogier van Spronsen, Francjan Zeman, Jiri de Laet, Corinne Spiekerkoetter, Ute Thimm, Eva Maiorana, Arianna Dionisi-Vici, Carlo Moeslinger, Dorothea Brunner-Krainz, Michaela Lotz-Havla, Amelie Sophia Cocho de Juan, José Angel Couce Pico, Maria Luz Santer, René Scholl-Bürgi, Sabine Mandel, Hanna Bliksrud, Yngve Thomas Freisinger, Peter Aldamiz-Echevarria, Luis Jose Hochuli, Michel Gautschi, Matthias Endig, Jessica Jordan, Jens McKiernan, Patrick Ernst, Stefanie Morlot, Susanne Vogel, Arndt Sander, Johannes Das, Anibh Martin Producer: 20160209 In: Orphanet journal of rare diseases vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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