Associated Papers
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.
Čechová A et al.
Journal of Inherited Metabolic Disease, 2020
A novel homozygous mutation in the mannose phosphate isomerase gene causing congenital disorder of glycation and hyperinsulinemic hypoglycemia in an infant.
Deeb A et al.
Clinical Case Reports, 2018
[Congenital disorder of glycosylation type 1b. Experience with mannose treatment].
Martín Hernández E et al.
Anales De Pediatria (barcelona, Spain : 2003), 2008
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