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Congenital 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.

Pubmed ID: 
19396570
Year: 
2009
Month: 
Dec
Volume: 
32 Suppl 1
Citation: 
Shanti B, Silink M, Bhattacharya K, Howard NJ, Carpenter K, Fietz M, Clayton P, Christodoulou J. Congenital 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 32 Suppl 1 : S241 - 51(2009) PubMed