Mübeccel Demirkol - Concepedia

Author

Mübeccel Demirkol

Istanbul University

Also Known As

Demirkol, M., M Demirkol, M. DEMIRKOL, M. Demirkol, Mubeccel Demirkol, Mübeccel Demirkol

Publications

1.7K

Citations

H-Index

Concepts

All Affiliations

Istanbul University University Children's Hospital Zurich Heidelberg University Medizinische Hochschule Hannover Boston Children's Hospital

About

Mübeccel Demirkol is an author at Istanbul University specializing in medicine, pathology, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	16	17	744
2	Biochemistry	4	4	211
3	Natural Sciences	3	3	189
4	Health Sciences	1	1	107
5	Public Health	1	1	15

Mübeccel Demirkol

Publications

1.4K

Citations

H-Index

Page 1

	Year	Citations
A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3 Sacha Ferdinandusse, Gerardo Jiménez‐Sánchez, Janet Koster, Human Molecular Genetics	2014	133
Management of phenylketonuria in Europe: Survey results from 19 countries Nenad Blau, Amaya Bélanger‐Quintana, Mübeccel Demirkol, Molecular Genetics and Metabolism UrologyMedicineSurvey ResultsChronic Kidney DiseaseNephrology	2009	117
Challenges and Pitfalls in the Management of Phenylketonuria François Feillet, Francjan J. van Spronsen, Anita MacDonald, PEDIATRICS NutritionMetabolic DisorderPhenylalanine-restricted DietMetabolic SyndromeBlood Phenylalanine Levels	2010	107
Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene Katie L. Swango, Mübeccel Demirkol, Gülden Hüner, Human Genetics D444h MutationBiochemistryGenetic DisorderNatural SciencesGenetics	1998	92
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, Molecular Genetics and Metabolism Aldehyde DehydrogenaseCellular EnzymologyTurkish Pku PopulationBiochemistryNatural Sciences	2010	79
Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients Vasiliki Ninis, Elif Dağlı, Mübeccel Demirkol, American Journal of Medical Genetics	2002	63
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, Journal of Inherited Metabolic Disease	2015	61
Silent and symptomatic primary carnitine deficiency within the same family due toidentical mutations in the organic cation/carnitine transporter OCTN2 Ute Spiekerkoetter, G. Huener, T. Baykal, Journal of Inherited Metabolic Disease	2003	53
Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases T. Baykal, Gülden Gökçay, Yasemi̇n Gökdemi̇r, Journal of Inherited Metabolic Disease	2005	47
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients Sarah C. Grünert, Sonja Marina Schlatter, Robert Niklas Schmitt, Molecular Genetics and Metabolism Inherited Metabolic DiseaseClinical PresentationPathologyLyase DeficiencyMedicine	2017	45

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