Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (pmm2-cdg): listening to what matters for the patients and health professionals

HIGHLIGHTS

• who: C. Pascoal from the College of Optometrists in Vision Development Quality of Life questionnaire (COVD QOL) have published the paper: Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals, in the Journal: (JOURNAL)
• what: The authors aimed to gather PROMs and ObsROMs that are specific for the most impactful PMM2-CDG clinical signs and symptoms. It was shared in a voluntary manner with all participants of the group and fell under the objectives of the group (i.e., promoting shared knowledge . . .
  

   

  

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