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Early enzyme replacement therapy in late onset Pompe disease diagnosed by newborn screening

Publication ,  Conference
Case, LE; Huggins, E; Jones, HN; Hobson-Webb, LD; McMechan, DR; Makhijani, NA; Nading, E; Moore, SA; Kishnani, PS
Published in: Molecular Genetics and Metabolism
February 2026

Duke Scholars

Published In

Molecular Genetics and Metabolism

DOI

ISSN

1096-7192

Publication Date

February 2026

Volume

147

Issue

2

Start / End Page

109357 / 109357

Publisher

Elsevier BV

Related Subject Headings

  • Genetics & Heredity
  • 3202 Clinical sciences
  • 3105 Genetics
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Case, L. E., Huggins, E., Jones, H. N., Hobson-Webb, L. D., McMechan, D. R., Makhijani, N. A., … Kishnani, P. S. (2026). Early enzyme replacement therapy in late onset Pompe disease diagnosed by newborn screening. In Molecular Genetics and Metabolism (Vol. 147, pp. 109357–109357). Elsevier BV. https://doi.org/10.1016/j.ymgme.2025.109357
Case, Laura E., Erin Huggins, Harrison N. Jones, Lisa D. Hobson-Webb, Deborah R. McMechan, Neelam A. Makhijani, Erica Nading, Steven A. Moore, and Priya S. Kishnani. “Early enzyme replacement therapy in late onset Pompe disease diagnosed by newborn screening.” In Molecular Genetics and Metabolism, 147:109357–109357. Elsevier BV, 2026. https://doi.org/10.1016/j.ymgme.2025.109357.
Case LE, Huggins E, Jones HN, Hobson-Webb LD, McMechan DR, Makhijani NA, et al. Early enzyme replacement therapy in late onset Pompe disease diagnosed by newborn screening. In: Molecular Genetics and Metabolism. Elsevier BV; 2026. p. 109357–109357.
Case, Laura E., et al. “Early enzyme replacement therapy in late onset Pompe disease diagnosed by newborn screening.” Molecular Genetics and Metabolism, vol. 147, no. 2, Elsevier BV, 2026, pp. 109357–109357. Crossref, doi:10.1016/j.ymgme.2025.109357.
Case LE, Huggins E, Jones HN, Hobson-Webb LD, McMechan DR, Makhijani NA, Nading E, Moore SA, Kishnani PS. Early enzyme replacement therapy in late onset Pompe disease diagnosed by newborn screening. Molecular Genetics and Metabolism. Elsevier BV; 2026. p. 109357–109357.
Journal cover image

Published In

Molecular Genetics and Metabolism

DOI

ISSN

1096-7192

Publication Date

February 2026

Volume

147

Issue

2

Start / End Page

109357 / 109357

Publisher

Elsevier BV

Related Subject Headings

  • Genetics & Heredity
  • 3202 Clinical sciences
  • 3105 Genetics