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
Disruption of the gaa Gene in Zebrafish Fails to Generate the Phenotype of Classical Pompe Disease.
Sign Up to like & getrecommendations! Published in 2017 at "DNA and cell biology"
DOI: 10.1089/dna.2016.3459
Abstract: The underlying pathogenic lesions of glycogen storage disease type II (GSD II) and the diversity of this disease among different species are still under exploration. Thus, we created an acid alpha-glucosidase (gaa) gene-mutated zebrafish model… read more here.
Keywords: disease; disruption gaa; gene zebrafish; gaa ... See more keywords