Classic infantile‐onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1957
Abstract: Pompe disease (PD) is an autosomal recessive disorder by a deficiency of acid α‐glucosidase (GAA) with intralysosomal glycogen accumulation in multiple tissues. We present the case of a 5‐month‐old male with hypertrophic cardiomyopathy, hypotony, feeding… read more here.
Keywords: pompe disease; gene; gaa gene; novel gaa ... See more keywords
Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.1001154
Abstract: Purpose: The addition of Pompe disease (Glycogen Storage Disease Type II) to the Recommended Uniform Screening Panel in the United States has led to an increase in the number of variants of uncertain significance (VUS)… read more here.
Keywords: classification; gaa variants; pompe disease; newborn screening ... See more keywords