Publications by authors named "Mubeccel Demirkol"

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A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics.
Mehmet Cihan Balci, Deniz Kor, Yilmaz Yildiz, Meryem Karaca, Fatma Derya Bulut, Mubeccel Demirkol

Orphanet J Rare Dis· August 2025

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Variable clinical phenotypes of alpha-methylacyl-CoA racemase deficiency: Report of four cases and review of the literature.
Arzu Selamioğlu, Mehmet Cihan Balcı, Meryem Karaca, Youssef Khalil, Rohit Hirachan, Mübeccel Demirkol

JIMD Rep· September 2024

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Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype.
Irem Kalay, Cagri Gulec, Mehmet Cihan Balcı, Guven Toksoy, Gulden Gokcay, Mubeccel Demirkol

Ann Hum Genet· November 2023

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Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases.
Asuman Gedikbasi, Guven Toksoy, Meryem Karaca, Cagri Gulec, Mehmet Cihan Balci, Mubeccel Demirkol

Front Genet· June 2023

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Cardiologic evaluation of Turkish mitochondrial fatty acid oxidation disorders.
Mehmet Cihan Balci, Meryem Karaca, Yakup Ergul, Rukiye Eker Omeroglu, Mubeccel Demirkol

Pediatr Int· January 2022

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Measurement of serum vitamin B12-related metabolites in newborns: implications for new cutoff values to detect B12 deficiency.
Aylin Yetim, Erhan Aygün, Çağcıl Yetim, Ahmet Ucar, Zeynep Karakaş, Mübeccel Demirkol

J Matern Fetal Neonatal Med· April 2021

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Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.
Sarah Catharina Grünert, Robert Niklas Schmitt, Sonja Marina Schlatter, Corinne Gemperle-Britschgi, Mehmet Cihan Balcı, Mübeccel Demirkol

Mol Genet Metab· September 2017

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3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.
Sarah Catharina Grünert, Sonja Marina Schlatter, Robert Niklas Schmitt, Corinne Gemperle-Britschgi, Lenka Mrázová, Mübeccel Demirkol

Mol Genet Metab· July 2017

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Rapid Desensitization for Immediate Hypersensitivity to Galsulfase Therapy in Patients with MPS VI.
Zeynep Tamay, Gulden Gokcay, Fatih Dilek, Mehmet Cihan Balci, Deniz Ozceker, Mubeccel Demirkol

JIMD Rep· March 2016

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Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
Martina Huemer, Regina Mulder-Bleile, Patricie Burda, D Sean Froese, Terttu Suormala, Mübeccel Demirkol

J Inherit Metab Dis· January 2016

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A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3.
Sacha Ferdinandusse, Gerardo Jimenez-Sanchez, Janet Koster, Simone Denis, Carlo W Van Roermund, Mubeccel Demirkol

Hum Mol Genet· January 2015

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Management of adult patients with phenylketonuria: survey results from 24 countries.
Friedrich K Trefz, Francjan J van Spronsen, Anita MacDonald, François Feillet, Ania C Muntau, Mübeccel Demirkol

Eur J Pediatr· January 2015

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Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients.
Sven F Garbade, Cheryl R Greenberg, Mübeccel Demirkol, Gülden Gökçay, Antonia Ribes

J Inherit Metab Dis· September 2014

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Towards newborn screening for ornithine transcarbamylase deficiency: fast non-chromatographic orotic acid quantification from dried blood spots by tandem mass spectrometry.
Nils Janzen, Michael Terhardt, Stefanie Sander, Mübeccel Demirkol, Gülden Gökçay

Clin Chim Acta· March 2014

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Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11.
Caroline Heintz, Steven F Dobrowolski, Henriette Skovgaard Andersen, Mübeccel Demirkol, Nenad Blau

Mol Genet Metab· August 2012

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Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.
Steven F Dobrowolski, Caroline Heintz, Trent Miller, Clinton Ellingson, Clifford Ellingson, Mübeccel Demirkol

Mol Genet Metab· February 2011

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Monitoring tyrosinaemia type I: Blood spot test for nitisinone (NTBC).
Johannes Sander, Nils Janzen, Michael Terhardt, Stefanie Sander, Gülden Gökcay, Mübeccel Demirkol

Clin Chim Acta· January 2011

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Challenges and pitfalls in the management of phenylketonuria.
François Feillet, Francjan J van Spronsen, Anita MacDonald, Friedrich K Trefz, Mübeccel Demirkol

Pediatrics· August 2010

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Management of phenylketonuria in Europe: survey results from 19 countries.
Nenad Blau, Amaya Bélanger-Quintana, Mübeccel Demirkol, François Feillet, Marcello Giovannini

Mol Genet Metab· February 2010

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Novel AGL mutation in a Turkish patient with glycogen storage disease type IIIa.
Yoshiko Aoyama, Yoriko Endo, Tetsu Ebara, Toshio Murase, Yoon S Shin, Mübeccel Demirkol

Pediatr Int· February 2010

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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.
Yoshiko Aoyama, Isil Ozer, Mubeccel Demirkol, Tetsu Ebara, Toshio Murase

J Hum Genet· November 2009

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Molecular genetics of maple syrup urine disease in the Turkish population.
Kerstin Gorzelany, Ali Dursun, Turgay Coşkun, Serap H Kalkanoğlu-Sivri, Gülden Fatma Gökçay, Mübeccel Demirkol

Turk J Pediatr· June 2009

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Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria.
Nenad Blau, Amaya Bélanger-Quintana, Mübeccel Demirkol, François Feillet, Marcello Giovannini

Mol Genet Metab· April 2009

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Prediction of premature atherosclerosis by endothelial dysfunction and increased intima-media thickness in glycogen storage disease types Ia and III.
Ensar Yekeler, Memduh Dursun, Eda Emeksiz, Murat Akkoyunlu, Yakup Akyol, Mübeccel Demirkol

Turk J Pediatr· November 2007

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Etiologic evaluation in 247 children with global developmental delay at Istanbul, Turkey.
Meral Ozmen, Burak Tatli, Nur Aydinli, Mine Calişkan, Mubeccel Demirkol

J Trop Pediatr· October 2005

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