Saadet Mercimek‐Mahmutoglu

Author

Hospital for Sick Children

Also Known As

S Mercimek-Mahmutoglu, S. Mercimek-Mahmutoglu, Saadet Mercimek-Mahmutoglu, Saadet Mercimek‐Mahmutoglu

Publications

Citations

H-Index

Concepts

All Affiliations

Hospital for Sick Children University of Toronto Amsterdam UMC Location Vrije Universiteit Amsterdam SickKids Foundation University of British Columbia

About

Saadet Mercimek‐Mahmutoglu is an author at Hospital for Sick Children specializing in medicine, neurology, and inherited metabolic disease.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	20	26	1K
2	Health Sciences	3	3	86
3	Social Sciences	2	2	101
4	Natural Sciences	1	1	47
5	Biochemistry	1	1	25

Saadet Mercimek‐Mahmutoglu

Publications

2.6K

Citations

H-Index

Page 1

	Year	Citations
Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine Dimitri J. Stavropoulos, Daniele Merico, Rebekah Jobling, npj Genomic Medicine	2016	374
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood Saadet Mercimek‐Mahmutoglu, Jaina Patel, Dawn Cordeiro, Epilepsia	2015	246
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency Jiddeke M. van de Kamp, Ofir T. Betsalel, Saadet Mercimek‐Mahmutoglu, Journal of Medical Genetics	2013	159
GAMT deficiency Saadet Mercimek‐Mahmutoglu, Sylvia Stoeckler-Ipsiroglu, A. Adami, Neurology	2006	156
Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring Sylvia Stöckler‐Ipsiroglu, Clara van Karnebeek, Nicola Longo, Molecular Genetics and Metabolism	2013	138
The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada Anne Roscher, Jaina Patel, Stacy Hewson, Molecular Genetics and Metabolism Metabolic SyndromeMetabolic DisorderDiabetesNatural HistoryLong-term Outcome	2014	116
Lysine restricted diet for pyridoxine-dependent epilepsy: First evidence and future trials Clara van Karnebeek, Hans Hartmann, Sravan Jaggumantri, Molecular Genetics and Metabolism	2012	104
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity ofMCCA andMCCB mutations and impact on risk assessment Sonja C. Stadler, Roman Polanetz, Esther M. Maier, Human Mutation	2006	89
Treatment of intractable epilepsy in a female with SLC6A8 deficiency Saadet Mercimek‐Mahmutoglu, Mary Connolly, Kenneth J. Poskitt, Molecular Genetics and Metabolism Clinical DisordersNeurobiology Of DiseaseNeurological DisorderIntractable EpilepsyNeuroscience	2010	77
Genotype–phenotype correlation in vanishing white matter disease H.D.W. van der Lei, Carola G.M. van Berkel, Wessel N. van Wieringen, Neurology	2010	74

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