GUY T. N. BESLEY

机构：Royal Manchester Children's Hospital

发表论文 129 篇 · 总被引 2754 次 · h-index 30

代表论文

• Refsum disease is caused by mutations in the phytanoyl–CoA hydroxylase gene (1997 · Nature Genetics · 被引 308)
• Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II (2003 · Human Mutation · 被引 154)
• The natural history of Niemann–Pick disease type C in the UK (2006 · Journal of Inherited Metabolic Disease · 被引 132)
• NovelOCTN2mutations: No genotype–phenotype correlations: Early carnitine therapy prevents cardiomyopathy (2002 · American Journal of Medical Genetics · 被引 123)
• Niemann–Pick disease type C in adults (2002 · Journal of Inherited Metabolic Disease · 被引 87)
• Identification of novel mutations in theSLC25A15gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study (2009 · Human Mutation · 被引 74)