Browsing by Author Fietz, M.

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Issue DateTitleAuthor(s)Citation
2009Congenital disorder of glycosylation type Ia: Heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiencyBhattacharya, Kaustuv; Carpenter, Kevin; Christodoulou, John; Silink, Martin; Clayton, P.; Fietz, M.; Howard, Neville J.; Shanti, B.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthCongenital disorder of glycosylation type Ia: Heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency, Journal of Inherited Metabolic Disease (JIMD), vol.Short Report #166 - online,(N/A),2009,pp 1-11
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
2012Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews.Burnett, Leslie; Lew, Raelia; Bankier, Agnes; Delatycki, Martin B.; Fietz, M.; Proos, A; Northern Clinical School: Kolling Institute; Central Clinical School: Obstetrics & GynaecologyTay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews., Medical Journal of Australia, vol.197, 11/12, 2012,pp 652-654