Browsing by Author Shanti, B.

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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