Clare Beesley

Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase

Philippa B. Mills, Robert Surtees, M. P. Champion et al. · Human Molecular Genetics · 2005 · 307 citations · Full text

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

Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations

Cathy Meaney, Gavin Greenland, Vanessa M. Adams et al. · Human Genetics · 2001 · 128 citations

Vitro Expression, Mutational Analysis, Mucopolysaccharidosis Type +9

Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)

Martin Hřebı́ček, Lenka Mrázová, Volkan Seyrantepe et al. · The American Journal of Human Genetics · 2006 · 95 citations · Full text

Sanfilippo C Syndrome, Autoimmune Disease, Genetic Disorder +6

Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients

Úrsula da Silveira Matte, Gouri Yogalingam, Doug A. Brooks et al. · Molecular Genetics and Metabolism · 2003 · 88 citations

New Mutations, Mucopolysaccharidosis Type, Immunodeficiencies +5