Jaina Patel

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

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 et al. · Molecular Genetics and Metabolism · 2014 · 116 citations

Metabolic Syndrome, Metabolic Disorder, Diabetes +6

Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy

Amal Al Teneiji, Theodora U. J. Bruun, Dawn Cordeiro et al. · Metabolic Brain Disease · 2016 · 58 citations

Medicine, Neuropharmacology, Neuroscience +4

Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene

Caro-Lyne DesRoches, Jaina Patel, Peixiang Wang et al. · Gene · 2015 · 39 citations

Creatine Transporter Deficiency, Genetic Disorder, Genetics +10

Long-term outcome of patients with X-linked adrenoleukodystrophy: A retrospective cohort study

Christel Tran, Jaina Patel, Stacy Hewson et al. · European Journal of Paediatric Neurology · 2017 · 29 citations

X-linked Adrenoleukodystrophy, Retrospective Cohort Study, Urology +4