Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
2013 · Journal of Medical Genetics · 162 citations
https://doi.org/10.1136/jmedgenet-2013-101658
S
Saadet Mercimek‐Mahmutoglu
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Saadet Mercimek‐Mahmutoglu is an academic researcher from University of Toronto. The author has contributed to research in topics: Metabolism and Genetic Disorders & Muscle metabolism and nutrition & Amino Acid Enzymes and Metabolism. The author has an h-index of 30, co-authored 74 publications.
Papers by this author
worksLysine restricted diet for pyridoxine-dependent epilepsy: First evidence and future trials
2012 · Molecular Genetics and Metabolism · 104 citations
https://doi.org/10.1016/j.ymgme.2012.09.006
Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene
2015 · Gene · 39 citations
https://doi.org/10.1016/j.gene.2015.04.011
Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by ALDH7A1 genetic defect
2014 · Molecular Genetics and Metabolism Reports · 27 citations
https://doi.org/10.1016/j.ymgmr.2014.02.001
<i>MED23</i>‐associated refractory epilepsy successfully treated with the ketogenic diet
2016 · American Journal of Medical Genetics Part A · 19 citations
https://doi.org/10.1002/ajmg.a.37802
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