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t/gene-pmm2

PMM2 gene

Discuss publications and research concerning the PMM2 gene.

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Related literature

Biochemical genetic testing for congenital disorders of glycosylation after sequencing produces equivocal results.
PMM2
[Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency].
PMM2
Congenital disorders of glycosylation (CDG): Quo vadis?
PMM2
Recognizable phenotypes in CDG.
PMM2
Nrf2 activation attenuates genetic endoplasmic reticulum stress induced by a mutation in the phosphomannomutase 2 gene in zebrafish.
PMM2
Protein misfolding diseases: Prospects of pharmacological treatment.
PMM2
Polycystic kidney disease: PMM2 mutation causes PKD and hyperinsulinism.
PMM2
[Congenital disorder of glycosylation type Ia (CDG Ia) - underdiagnosed entity?].
PMM2
Congenital disorders of glycosylation with emphasis on cerebellar involvement.
PMM2
Congenital disorders of glycosylation.
PMM2

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