Ee Shien Tan

Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia

Kendra Bjoraker, Michael A. Swanson, Curtis R. Coughlin et al. · The Journal of Pediatrics · 2016 · 78 citations

Inborn Error of Metabolism (IEM) screening in Singapore by electrospray ionization-tandem mass spectrometry (ESI/MS/MS): An 8year journey from pilot to current program

James Lim, Ee Shien Tan, Catharine John et al. · Molecular Genetics and Metabolism · 2014 · 72 citations

Medicine, Mass Spectrometry, Biological Mass Spectrometry +11

Analysis of clinically relevant variants from ancestrally diverse Asian genomes

Sock Hoai Chan, Yasmin Bylstra, Jing Xian Teo et al. · Nature Communications · 2022 · 69 citations · Full text

Genetic Disease Epidemiology, Genetics, Genetic Epidemiology +19

A Phase 3, multicenter, open-label, switchover trial to assess the safety and efficacy of taliglucerase alfa, a plant cell-expressed recombinant human glucocerebrosidase, in adult and pediatric patients with Gaucher disease previously treated with imiglucerase

Gregory M. Pastores, Мilan Petakov, Pilar Giraldo et al. · Blood Cells Molecules and Diseases · 2014 · 58 citations

Phase 3, Switchover Trial, Plant Pathology +4

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

Holger Hengel, Célia Bosso-Lefèvre, George Grady et al. · Nature Communications · 2020 · 52 citations · Full text