Concepedia

Saadet Mercimek‐Mahmutoglu

SM

43

Publications

2.6K

Citations

27

H-Index

2004

Active since

Affiliations

Hospital for Sick Children(Current)

University of Toronto

Amsterdam UMC Location Vrije Universiteit Amsterdam

SickKids Foundation

University of British Columbia

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

Top concepts

Publications per year

2004–2017

43

Publications

43

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Dimitri J. Stavropoulos, Daniele Merico, Rebekah Jobling et al. · npj Genomic Medicine · 2016 · 374 citations · Full text

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood

Saadet Mercimek‐Mahmutoglu, Jaina Patel, Dawn Cordeiro et al. · Epilepsia · 2015 · 246 citations · Full text

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

Jiddeke M. van de Kamp, Ofir T. Betsalel, Saadet Mercimek‐Mahmutoglu et al. · Journal of Medical Genetics · 2013 · 159 citations · Full text

GAMT deficiency

Saadet Mercimek‐Mahmutoglu, Sylvia Stoeckler-Ipsiroglu, A. Adami et al. · Neurology · 2006 · 156 citations

Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

Sylvia Stöckler‐Ipsiroglu, Clara van Karnebeek, Nicola Longo et al. · Molecular Genetics and Metabolism · 2013 · 138 citations · Full text

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