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Mübeccel Demirkol

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Turkey

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Caroline Heintz; Henriette Skovgaard Andersen; Nenad Blau; Mübeccel Demirkol; Steven F Dobrowolski; Brage Storstein Andresen
Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11.
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.
Johannes Sander; Nils Janzen; Michael Terhardt; Stefanie Sander; Gülden Gökcay; Mübeccel Demirkol; Isıl Ozer; Michael Peter; Anibh M Das
Monitoring tyrosinaemia type I: Blood spot test for nitisinone (NTBC).

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All Publications

2012: Caroline Heintz; Henriette Skovgaard Andersen; Nenad Blau; Mübeccel Demirkol; Steven F Dobrowolski; Brage Storstein Andresen
Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11.
Molecular genetics and metabolism 2012;106(4):403-11.
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.
2011: Johannes Sander; Nils Janzen; Michael Terhardt; Stefanie Sander; Gülden Gökcay; Mübeccel Demirkol; Isıl Ozer; Michael Peter; Anibh M Das
Monitoring tyrosinaemia type I: Blood spot test for nitisinone (NTBC).
Clinica chimica acta; international journal of clinical chemistry 2011;412(1-2):134-8.
2010: François Feillet; Francjan J van Spronsen; Anita MacDonald; Friedrich K Trefz; Mübeccel Demirkol; Marcello Giovannini; Amaya Bélanger-Quintana; Nenad Blau
Challenges and pitfalls in the management of phenylketonuria.
Pediatrics 2010;126(2):333-41.
2010: Yoshiko Aoyama; Yoriko Endo; Tetsu Ebara; Toshio Murase; Yoon S Shin; Teodor Podskarbi; Isil Ozer; Mübeccel Demirkol; Gülden Gökçay; Minoru Okubo
Novel AGL mutation in a Turkish patient with glycogen storage disease type IIIa.
Pediatrics international : official journal of the Japan Pediatric Society 2010;52(1):145-7.
2010: Nenad Blau; Amaya Bélanger-Quintana; Mübeccel Demirkol; François Feillet; Marcello Giovannini; Anita MacDonald; Friedrich K Trefz; Francjan J van Spronsen
Management of phenylketonuria in Europe: survey results from 19 countries.
Molecular genetics and metabolism 2010;99(2):109-15.
2009: Nenad Blau; Amaya Bélanger-Quintana; Mübeccel Demirkol; François Feillet; Marcello Giovannini; Anita MacDonald; Friedrich K Trefz; Francjan J van Spronsen
Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria.
Molecular genetics and metabolism 2009;96(4):158-63.
2009: Kerstin Gorzelany; Ali Dursun; Turgay Coşkun; Serap H Kalkanoğlu-Sivri; Gülden Fatma Gökçay; Mübeccel Demirkol; Oliver Feyen; Udo Wendel
Molecular genetics of maple syrup urine disease in the Turkish population.
The Turkish journal of pediatrics 2009;51(2):97-102.
2007: Ensar Yekeler; Memduh Dursun; Eda Emeksiz; Murat Akkoyunlu; Yakup Akyol; Fikri Demir; Gülden Gökcay; Mübeccel Demirkol
Prediction of premature atherosclerosis by endothelial dysfunction and increased intima-media thickness in glycogen storage disease types Ia and III.
The Turkish journal of pediatrics 2007;49(2):115-9.
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: Meral Ozmen; Burak Tatli; Nur Aydinli; Mine Calişkan; Mübeccel Demirkol; Hulya Kayserili
Etiologic evaluation in 247 children with global developmental delay at Istanbul, Turkey.
Journal of tropical pediatrics 2005;51(5):310-3.
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: 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: Mehmet Okyay Kilinç; Vasiliki Ninidu Ninis; Elif Dağli; Mübeccel Demirkol; Ferda Ozkinay; Zeliha Arikan; Ozgür Coğulu; Gülden Hüner; Fazilet Karakoç; Aslihan Tolun
Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients.
American journal of medical genetics 2002;113(3):250-7.
2002: Ipek Akman; Sebahat Imamoğlu; Mübeccel Demirkol; Harika Alpay; Eren Ozek
Neonatal onset propionic acidemia without acidosis: a case report.
The Turkish journal of pediatrics 2002;44(4):339-42.
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.
2002: Ali Dursun; Marco Henneke; K Ozgül; J Gartner; T Coşkun; Aysegul Tokatli; H S Kalkanoğlu; Mübeccel Demirkol; Udo Wendel; Imran Ozalp
Maple syrup urine disease: mutation analysis in Turkish patients.
Journal of inherited metabolic disease 2002;25(2):89-97.
2001: A Demirkol; Mübeccel Demirkol; Korkud Demirel; H Meriç; Sema Cantez
Blood flow of free gingival grafts measured by xenon-133 clearance.
Periodontal clinical investigations : official publication of the Northeastern Society of Periodontists 2001;23(1):15-9.
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: Mehmet Okyay Kilinç; Vasiliki Ninidu Ninis; Aslihan Tolun; X Estivill; T Casals; Alexey Savov; Elif Dagli; Fazilet Karakoç; Mübeccel Demirkol; Gülden Hüner; Ferda Ozkinay; E Demir; J L Seculi; J Pena; C Bousono; J Ferrer-Calvete; C Calvo; G Glover; I Kremenski
Genotype-phenotype correlation in three homozygotes for the cystic fibrosis mutation 2183AA-->G shows a severe phenotype.
Journal of medical genetics 2000;37(4):307-9.
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.
2000: S Blanton; Arti Pandya; BL Landa; R Javaheri; X Xia; Walter E Nance; RJ Pomponio; KJ Norrgard; KL Swango; Mübeccel Demirkol; H Gülden; Turgay Coskun; Aysegul Tokatli; Imran Ozalp; Barry Wolf
Fine mapping of the human biotinidase gene and haplotype analysis of five common mutations.
Human heredity 2000;50(2):102-11.
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.
1998: KL Swango; Mübeccel Demirkol; Gülden Hüner; Ewa Pronicka; Jolanta Sykut-Cegielska; A Schulze; Ertan Mayatepek; Barry Wolf
Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.
Human genetics 1998;102(5):571-5.
1997: Mübeccel Demirkol; Isik Adalet; Seher Unal; R Tözün; Sema Cantez
99Tc(m)-polyclonal IgG scintigraphy in the detection of infected hip and knee prostheses.
Nuclear medicine communications 1997;18(6):543-8.
1997: Isik Adalet; Mübeccel Demirkol; M Müslümanoğlu; Y Bozfakioğlu; Sema Cantez
99Tcm-tetrofosmin scintigraphy in the evaluation of palpable breast masses.
Nuclear medicine communications 1997;18(2):118-21.
1996: H Böhles; Mübeccel Demirkol; Adrian C Sewell
The influence of a severe burn injury on the distribution of carnitine between blood cells.
Burns : journal of the International Society for Burn Injuries 1996;22(2):166.
1995: Adrian C Sewell; Hansjosef Böhles; Jürgen Herwig; Mübeccel Demirkol
Neurological deterioration in patients with urea cycle disorders under valproate therapy--a cause for concern.
European journal of pediatrics 1995;154(7):593-4.
1994: Mübeccel Demirkol; Adrian C Sewell; H Böhles
The variation of carnitine content in human blood cells during disease--a study in bacterial infection and inflammatory bowel disease.
European journal of pediatrics 1994;153(8):565-8.
1992: M Karaböcüoğlu; N Başarer; U Aydoğan; Mübeccel Demirkol; G Kurdoğlu; O Neyzi
Development of Kasabach-Merritt syndrome following needle aspiration of a hemangioma.
Pediatric emergency care 1992;8(4):218-20.
1988: Mübeccel Demirkol; T Ertuğrul; O Neyzi
Ocular and periorbital anthropometry in the newborn.
Human biology 1988;60(1):11-21.