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phosphomutases
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Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models.
Metabolic adaptation of human skin fibroblasts to ER stress caused by glycosylation defect in PMM2-C…
Motor improvement in children with PMM2-CDG syndrome following a six-month rehabilitation treatment …
Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis.
Hide and seek": Misleading transferrin variants in PMM2-CDG complicate diagnostics.
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