Article

Umbilical Cord Blood Sampling for Newborn Screening of Pompe Disease and the Detection of a Novel Pathogenic Variant and Pseudodeficiency Variants in an Asian population

2025-07-11

Abstract excerpt

<h4>Background: </h4> Pompe disease is an autosomal recessive metabolic disorder caused by acid alpha-glucosidase (GAA) deficiency. The use of umbilical cord blood (UCB) for newborn screening (NBS) of Pompe disease, compared to heel-prick sampling, has not been widely studied. <h4>Methods:</h4> This study compared GAA activity in UCB from term newborns with peripheral or heel-prick blood samples obtained on days 1...

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Literature Corpus work: 57c0b466-bb00-5e99-bd6e-c5252657c335
DOI: 10.20944/preprints202507.1039.v1

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