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Tolunay Baykal

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Turkey

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Steven F Dobrowolski; Caroline Heintz; Trent Miller; Clinton Ellingson; Clifford Ellingson; Işıl Ozer; Gulden Gökçay; Tolunay Baykal; Beat Thöny; Mübeccel Demirkol; Nenad Blau
Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.
Yüksel Yýlmaz; Nihal Özdemir; Gazanfer Ekinci; Tolunay Baykal; Canan Kocaman
Corticospinal tract involvement in a patient with 3-HMG coenzyme A lyase deficiency.
Nur Aydinli; Burak Tatli; Mine Calişkan; Meral Ozmen; Agop Citak; Aysegul Unuvar; Tolunay Baykal; Rukiye Eker Omeroglu; Kubilay Aydin; Serra Sencer; Altay Sencer; Talat Kiriş
Stroke in childhood: experience in Istanbul, Turkey.

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All Publications

2011: Steven F Dobrowolski; Caroline Heintz; Trent Miller; Clinton Ellingson; Clifford Ellingson; Işıl Ozer; Gulden Gökçay; Tolunay Baykal; Beat Thöny; Mübeccel Demirkol; Nenad Blau
Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.
Molecular genetics and metabolism 2011;102(2):116-21.
2006: Yüksel Yýlmaz; Nihal Özdemir; Gazanfer Ekinci; Tolunay Baykal; Canan Kocaman
Corticospinal tract involvement in a patient with 3-HMG coenzyme A lyase deficiency.
Pediatric neurology 2006;35(2):139-41.
2006: Nur Aydinli; Burak Tatli; Mine Calişkan; Meral Ozmen; Agop Citak; Aysegul Unuvar; Tolunay Baykal; Rukiye Eker Omeroglu; Kubilay Aydin; Serra Sencer; Altay Sencer; Talat Kiriş
Stroke in childhood: experience in Istanbul, Turkey.
Journal of tropical pediatrics 2006;52(3):158-62.
2006: Gulden Huner Gokcay; Tolunay Baykal; Yasemin Gokdemir; Mübeccel Demirkol
Breast feeding in organic acidaemias.
Journal of inherited metabolic disease 2006;29(2-3):304-10.
2005: Marcel R Zurflüh; Marcello Giovannini; Laura Fiori; Betina Fiege; Yasemin Gokdemir; Tolunay Baykal; Lucja Kierat; Konrad H Gärtner; Beat Thöny; Nenad Blau
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper.
Molecular genetics and metabolism 2005;86 Suppl 1():S96-103.
2005: Barry Wolf; Kevin P Jensen; Bruce A Barshop; Miriam G Blitzer; Martha D Carlson; David R Goudie; Gulden Huner Gokcay; Mübeccel Demirkol; Tolunay Baykal; Fikri Demir; Sharon Quary; Ling Yu Shih; Helio F Pedro; Tsui-Hua H Chen; Alfred E Slonim
Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.
Human mutation 2005;25(4):413.
2005: Tolunay Baykal; Gulden Huner Gokcay; Yasemin Gokdemir; Fikri Demir; Y Seckin; Mübeccel Demirkol; K Jensen; Barry Wolf
Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases.
Journal of inherited metabolic disease 2005;28(6):903-12.
2005: G Huner; Tolunay Baykal; Fikri Demir; Mübeccel Demirkol
Breastfeeding experience in inborn errors of metabolism other than phenylketonuria.
Journal of inherited metabolic disease 2005;28(4):457-65.
2005: Tolunay Baykal; Gulden Huner Gokcay; Zeynep Ince; Maria Fernanda Dantas; Brian Fowler; Matthias R Baumgartner; Fikri Demir; Gulay Can; Mübeccel Demirkol
Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome.
Journal of inherited metabolic disease 2005;28(2):229-33.
2004: Neslihan Onenli-Mungan; Bilgin Yüksel; Mürüvet Elkay; Ali Kemal Topaloğlu; Tolunay Baykal; Güler Ozer
Type II hyperprolinemia: a case report.
The Turkish journal of pediatrics 2004;46(2):167-9.
2004: Tolunay Baykal; Ipek S Karaaslan; Gulden Huner Gokcay; Fikri Demir; Yahya R Laleli; Mübeccel Demirkol
Hyperhydroxyprolinaemia detected in newborn screening with tandem mass spectrometry.
Journal of inherited metabolic disease 2004;27(6):781-2.
2003: Ute Spiekerkoetter; G Huener; Tolunay Baykal; Mübeccel Demirkol; Marinus Duran; R Wanders; J Nezu; Ertan Mayatepek
Silent and symptomatic primary carnitine deficiency within the same family due to identical mutations in the organic cation/carnitine transporter OCTN2.
Journal of inherited metabolic disease 2003;26(6):613-5.
2003: Oya Uyguner; E Goicoechea de Jorge; Ayse Cefle; Tolunay Baykal; Hulya Kayserili; Kivanc Cefle; Mübeccel Demirkol; Memnune Yuksel-Apak; S Rodriguez de Córdoba; Bernd Wollnik
Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from central Asia and was spread throughout Europe and Anatolia by human migrations.
Journal of inherited metabolic disease 2003;26(1):17-23.
2002: Barry Wolf; K Jensen; Gülden Hüner; Mübeccel Demirkol; Tolunay Baykal; Priscille Divry; Marie-Odile Rolland; Celia Perez-Cerdá; Magdalena Ugarte; Rachel Straussberg; Lina Basel-Vanagaite; E Regula Baumgartner; Terttu Suormala; Sabine Scholl; Anibh M Das; S Schweitzer; Ewa Pronicka; Jolanta Sykut-Cegielska
Seventeen novel mutations that cause profound biotinidase deficiency.
Molecular genetics and metabolism 2002;77(1-2):108-11.
2000: Anne Romstad; H S Kalkanoğlu; T Coşkun; Mübeccel Demirkol; Aysegul Tokatli; Ali Dursun; Tolunay Baykal; Imran Ozalp; Per Guldberg; Flemming Güttler
Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE).
Human genetics 2000;107(6):546-53.
2000: RJ Pomponio; Turgay Coskun; Mübeccel Demirkol; Aysegul Tokatli; Imran Ozalp; Gülden Hüner; Tolunay Baykal; Barry Wolf
Novel mutations cause biotinidase deficiency in Turkish children.
Journal of inherited metabolic disease 2000;23(2):120-8.
1998: Tolunay Baykal; Gülden Hüner; G Sarbat; Mübeccel Demirkol
Incidence of biotinidase deficiency in Turkish newborns.
Acta paediatrica (Oslo, Norway : 1992) 1998;87(10):1102-3.
1998: Gülden Hüner; T Podskarbi; M Schütz; Tolunay Baykal; G Sarbat; Y S Shin; Mübeccel Demirkol
Molecular aspects of glycogen storage disease type Ia in Turkish patients: a novel mutation in the glucose-6-phosphatase gene.
Journal of inherited metabolic disease 1998;21(4):445-6.