Browsing by Author Sim, Keow

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Issue DateTitleAuthor(s)Citation
2002Acylcarnitine profiles in fibroblasts from patients with respiratory chain defects can resemble those from patients with mitochondrial fatty acid Oxidation disordersCarpenter, Kevin; Christodoulou, John; Sim, Keow; Wilcken, Bridget; Hammond, Judith; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthAcylcarnitine profiles in fibroblasts from patients with respiratory chain defects can resemble those from patients with mitochondrial fatty acid Oxidation disorders, Metabolism-Clinical And Experimental, vol.51,(3),2002,pp 366-371
2002Quantitative fibroblasts acylcarnitine profiles in mitochondrial fatty acid beta-oxidation defects: phenotype/metabolite correlationsCarpenter, Kevin; Christodoulou, John; Sim, Keow; Wilcken, Bridget; Hammond, Judith; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthQuantitative fibroblasts acylcarnitine profiles in mitochondrial fatty acid beta-oxidation defects: phenotype/metabolite correlations, Molecular genetics and metabolism, vol.76,(4),2002,pp 327-334
2002Strategies for the diagnosis of mitochondrial fatty acid beta-oxidation disordersSim, Keow; Wilcken, Bridget; Hammond, Judith; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthStrategies for the diagnosis of mitochondrial fatty acid beta-oxidation disorders, Clinica Chimica Acta, vol.323,(1-2),2002,pp 37-58
2005Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene.Sim, Keow; Wilcken, Bridget; Amat di San Filippo, Cristina; Dobrowolski, Steven F.; Longo, Nicola; McKinney, Jason T.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthValidation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene., Human Mutation, vol.25,(3),2005,pp 306-313