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Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden
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xref:PubMed:34420056
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xref:PubMed:39561044
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xref:PubMed:38430517
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[Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency].
Not available
S-EPMC9979379
|
biostudies-literature
Cite
<i>In Silico</i> Analysis of Phosphomannomutase-2 Dimer Interface Stability and Heterodimerization with Phosphomannomutase-1.
Not available
S-EPMC12195792
|
biostudies-literature
Cite
Among multiple phosphomannomutase gene orthologues, only one gene encodes a protein with phosphoglucomutase and phosphomannomutase activities in Thermococcus kodakaraensis.
Not available
S-EPMC515153
|
biostudies-literature
Cite
Phosphomannomutase 2 hyperinsulinemia: Recent advances of genetic pathogenesis, diagnosis, and management.
Not available
S-EPMC9884677
|
biostudies-literature
Cite
Complexes of the enzyme phosphomannomutase/phosphoglucomutase with a slow substrate and an inhibitor.
Not available
S-EPMC2242917
|
biostudies-literature
Cite
Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality.
Not available
S-EPMC1592760
|
biostudies-literature
Cite
Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation.
Not available
S-EPMC3893156
|
biostudies-literature
Cite
Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease.
Not available
S-EPMC9578706
|
biostudies-literature
Cite
Enzymatic and structural characterization of HAD5, an essential phosphomannomutase of malaria-causing parasites.
Not available
S-EPMC8808168
|
biostudies-literature
Cite
AAV9-based
PMM2
gene replacement augments PMM2 expression and improves glycosylation in primary fibroblasts of patients with phosphomannomutase 2 deficiency (PMM2-CDG).
Not available
S-EPMC10733668
|
biostudies-literature
Cite
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