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Sensitivity of Transferrin Isoform Analysis for PMM2-CDG

Patrica L. Hall, Kris Liedke,Coleman Turgeon,Amy White, Gesele Bentz Pino,Dawn Peck,April Studinski,Dimitar Gavrilov,Silvia Tortorelli,Devin Oglesbee,Dietrich Matern,Kimiyo Raymond,Matthew J. Schultz

Molecular Genetics and Metabolism（2024）

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Key words
PMM2-CDG,Carbohydrate deficient transferrin,Congenital disorders of glycosylation,Biochemical testing,Test performance
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