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International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and

Ruqaiah Altassan1,2, Silvia Radenkovic3,4,5,6, Andrew C Edmondson7

  • 1Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Journal of Inherited Metabolic Disease
|July 19, 2020
PubMed

Keywords:
d-galactosePGM1-CDGcongenital disorder of glycosylationmanagement guidelinesphosphoglucomutase 1 deficiency

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