Glucose phosphate isomerase deficiency demasked by whole-genome sequencing: a case report.

Sissel HolmeRichard van WijkAndreas Ørslev RasmussenJesper PetersenAndreas Glenthoej

Published in: Journal of medical case reports (2024)

Whole-genome sequencing stands as a potent tool for identifying hereditary anemias, ensuring optimal management strategies.

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