G. T. N. Besley

Refsum disease is caused by mutations in the phytanoyl–CoA hydroxylase gene

Gerbert A. Jansen, Rob Oftnan, Sacha Ferdinandusse et al. · Nature Genetics · 1997 · 306 citations

Life Sciences, Genetics, Molecular Genetics +8

Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

M M Hermans, Dik van Leenen, Marian A. Kroos et al. · Human Mutation · 2003 · 152 citations

Life Sciences, Genetics, Molecular Genetics +15

The natural history of Niemann–Pick disease type C in the UK

Jackie Imrie, Shyamal Dasgupta, G. T. N. Besley et al. · Journal of Inherited Metabolic Disease · 2006 · 130 citations

Life Sciences, Internal Medicine, Pathology +10

Novel<i>OCTN2</i>mutations: No genotype–phenotype correlations: Early carnitine therapy prevents cardiomyopathy

Anne‐Marie Lamhonwah, S. E. Olpin, R. J. Pollitt et al. · American Journal of Medical Genetics · 2002 · 119 citations

Life Sciences, Genetics, Molecular Genetics +9

Niemann–Pick disease type C in adults

Jackie Imrie, S. Vijayaraghaven, C. Whitehouse et al. · Journal of Inherited Metabolic Disease · 2002 · 86 citations

Medicine, Internal Medicine, Pathology +5