Browsing by Author Cathey, Sara

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Issue DateTitleAuthor(s)Citation
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
2014A novel intermediate mucolipidosis II/IIIβ caused by GNPTAB mutation in the cytosolic N-terminal domainSillence, David; Barnes, Jarrod; Cathey, Sara; Friez, M.; Lebel, Robert Roger; Leroy, Jules G; Steet, Richard; Stevenson, Roger E; Wood, Tim; Childrens Hospital Westmead: Paediatrics & Child HealthA novel intermediate mucolipidosis II/IIIβ caused by GNPTAB mutation in the cytosolic N-terminal domain, European Journal of Human Genetics, vol.22, 5, 2014,pp 594-601