Browsing by Author Fletcher, Janice

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Issue DateTitleAuthor(s)Citation
2011Enzyme replacement therapy "drug holiday": Results from an unexpected shortage of an orphan drug supply in AustraliaWilson, Meredith; Fletcher, Janice; Goldblatt, Jack; McGill, Jim; Szer, Jeffrey; Children's Hospital Westmead: Paediatrics & Child HealthEnzyme replacement therapy "drug holiday": Results from an unexpected shortage of an orphan drug supply in Australia, Blood Cells, Molecules and Diseases, vol.46, 1, 2011,pp 107-110
2009Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 YearsCarpenter, Kevin; Christodoulou, John; Ellaway, Carolyn; Wilcken, Bridget; Wiley, Veronica; Bowling, Francis; Cowley, David; Fletcher, Janice; Haas, Marion; Joy, Pamela; Kirk, E. P. E.; Lewis, Barry; McGill, Jim; Peters, Heidi; Pitt, James; 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 Health; Children's Hospital Westmead: Paediatrics & Child HealthExpanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years, Pediatrics, vol.124, 2,pp e241-e248
2016Interruption of enzyme replacement therapy in Gaucher diseaseWilson, Meredith; Fletcher, Janice; Goldblatt, Jack; McGill, Jim J.; Szer, J; Childrens Hospital Westmead: Paediatrics & Child HealthInterruption of enzyme replacement therapy in Gaucher disease, SAMJ South African Medical Journal, vol.106, 6, 2016,pp S79-S81
2016Interruption of enzyme replacement therapy in Gaucher diseaseWilson, Meredith; Fletcher, Janice; Goldblatt, Jack; McGill, Jim J.; Szer, J; Childrens Hospital Westmead: Paediatrics & Child HealthInterruption of enzyme replacement therapy in Gaucher disease, SAMJ South African Medical Journal, vol.106, 6, 2016,pp S79-S81
2002The molecular basis of cystathionine Beta-synthase deficiency in Australian patients: Genotype-Phenotype correlations and response to treatmentWilcken, Bridget; Fletcher, Janice; Gaustadnes, Mette; Kraus, Jan P.; McGill, Jim; Oliveriusova, Jana; Wilcken, David E.; Children's Hospital Westmead: Paediatrics & Child HealthThe molecular basis of cystathionine Beta-synthase deficiency in Australian patients: Genotype-Phenotype correlations and response to treatment, Human Mutation, vol.20,(2),2002,pp 117-126
2010The natural history and osteodystrophy of mucolipidosis types II and IIIMunns, Craig; Sillence, David; Alcausin, Melanie; Ault, Jenny E.; Briody, Julie N.; Cathey, Sara; David-Vizcarra, Grace; Edwards, Matthew J.; Fietz, M.; Fletcher, Janice; McGill, Jim; Savarirayan, Ravi; Wilson, Meredith J.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthThe natural history and osteodystrophy of mucolipidosis types II and III, Journal of Paediatrics and Child Health, vol.46, 6, 2010,pp 316-322
2012Neonatal screening for lysosomal storage disordersWilcken, Bridget; Fletcher, Janice; Children's Hospital Westmead: Paediatrics & Child HealthNeonatal screening for lysosomal storage disorders, The Lancet, vol.379, 9813, 2012,pp 294-295
2007Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort studyBlack, Carly; Joy, Pamela; Wilcken, Bridget; Wiley, Veronica; Boneh, Avihu; Chaplin, Meredyth; Fletcher, Janice; Haas, Marion; McGill, Jim; 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 HealthOutcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study, The Lancet, vol.369,(9555),2007,pp 37-42