Goomber, S., Yi, H., Austin, S., Rehder, C., Crawford, G., Bali, D. S., & Kishnani, P. (2021). 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). In Molecular Genetics and Metabolism (Vol. 132, pp. S45–S45). Elsevier BV. https://doi.org/10.1016/j.ymgme.2020.12.093

Goomber, Shelly, Haiqing Yi, Stephanie Austin, Catherine Rehder, Gregory Crawford, Deeksha Sarihyan Bali, and Priya Kishnani. “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).” In Molecular Genetics and Metabolism, 132:S45–S45. Elsevier BV, 2021. https://doi.org/10.1016/j.ymgme.2020.12.093.

Goomber S, Yi H, Austin S, Rehder C, Crawford G, Bali DS, et al. 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). In: Molecular Genetics and Metabolism. Elsevier BV; 2021. p. S45–S45.

Goomber, Shelly, et al. “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).” Molecular Genetics and Metabolism, vol. 132, no. 2, Elsevier BV, 2021, pp. S45–S45. Crossref, doi:10.1016/j.ymgme.2020.12.093.

Goomber S, Yi H, Austin S, Rehder C, Crawford G, Bali DS, Kishnani P. 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). Molecular Genetics and Metabolism. Elsevier BV; 2021. p. S45–S45.