Associated Papers
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.
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Journal of Inherited Metabolic Disease, 2020
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).
Schollen E et al.
Human Mutation, 2000
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