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.
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