Functional analysis and clinical curation of human acid alpha glucosidase (GAA) variants of unknown significance (VUS) screened from infants diagnosed with Pompe disease via newborn screening (NBS)
Goomber, Shelly, Yi, Haiqing, Austin, Stephanie, Rehder, Catherine, Crawford, Gregory, Bali, Deeksha Sarihyan, Kishnani, Priya
Published in Molecular genetics and metabolism (01.02.2021)
Published in Molecular genetics and metabolism (01.02.2021)
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Variable Genotype-Phenotype Correlation of Pompe's Disease Caused by a c.2015 G > A (p.Arg672Gln) Mutation in the GAA Gene
Tokatly Latzer, Itay, Sagi, Liora, Bali, Deeksha Sarihyan, Rehder, Catherine, Orbach, Rotem, Fattal-Valevski, Aviva
Published in Neuropediatrics (01.12.2021)
Published in Neuropediatrics (01.12.2021)
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