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Last Updated: 09/18/2022

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Found 8 publications

Assessing the effects of PMM2 variants on protein stability.

Summary: Assessing the effects of PMM2 variants on protein stability.

Genotype-Phenotype Correlations in PMM2-CDG.

Summary: Genotype-Phenotype Correlations in PMM2-CDG.

D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial.

Summary: D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial.

Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up.

Summary: Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up.

Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up.

Summary: Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up.

Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway.

Summary: Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway.

Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG).

Summary: Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG).

AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).

Summary: AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).
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Last Updated: 09/18/2022