Keow Giak Sim

Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B

Gladys Ho, Atsushi Yonezawa, Satohiro Masuda et al. · Human Mutation · 2010 · 120 citations

Riboflavin Transport, Riboflavin Transporter, Developmental Biology +13

Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies

Kevin Carpenter, Veronica Wiley, Keow Giak Sim et al. · Archives of Disease in Childhood Fetal & Neonatal · 2001 · 87 citations · Full text

Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry

Bridget Wilcken, Veronica Wiley, Keow Giak Sim et al. · The Journal of Pediatrics · 2001 · 82 citations

Carnitine Transporter Defect, Medicine, Inherited Metabolic Disease +4

Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in theSLC22A5 gene

Steven F. Dobrowolski, Jason T. McKinney, Cristina Amat Di San Filippo et al. · Human Mutation · 2005 · 61 citations

Acylcarnitine profiles in fibroblasts from patients with respiratory chain defects can resemble those from patients with mitochondrial fatty acid [beta ]-oxidation disorders

Keow Giak Sim, Kevin Carpenter, Judith Hammond et al. · Metabolism · 2002 · 50 citations

Oxysterol, Mitochondrial Function, Biochemistry +9