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
Int J Neonatal Screen. 2025 Sep 3;11(3):74. doi: 10.3390/ijns11030074. ABSTRACT Pompe disease is an autosomal recessive metabolic disorder caused by acid alpha-glucosidase (GAA) deficiency. The …