Clare Beesley
Great Ormond Street Hospital(GB)Great Ormond Street Hospital for Children NHS Foundation Trust(GB)University College London(GB)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Trypanosoma species research and implications, Carbohydrate Chemistry and Synthesis, Cellular transport and secretion, Glycogen Storage Diseases and Myoclonus
Most-Cited Works
- → Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase(2005)307 cited
- → Pandemic peak SARS-CoV-2 infection and seroconversion rates in London frontline health-care workers(2020)245 cited
- → Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II(2003)152 cited
- → Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations(2001)128 cited
- → Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)(2006)95 cited
- → Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients(2003)88 cited