Longitudinal follow up uncovers an early emerging phenotype in children with late-onset Pompe disease diagnosed via newborn screening
Publication
, Conference
Huggins, E; Makhijani, NA; Holland, M; Jones, H; Blount, J; Jung, S-H; Case, L; Kishnani, PS
Published in: Molecular Genetics and Metabolism
February 2023
Duke Scholars
Published In
Molecular Genetics and Metabolism
DOI
ISSN
1096-7192
Publication Date
February 2023
Volume
138
Issue
2
Start / End Page
107158 / 107158
Publisher
Elsevier BV
Related Subject Headings
- Genetics & Heredity
- 3202 Clinical sciences
- 3105 Genetics
- 1103 Clinical Sciences
Citation
APA
Chicago
ICMJE
MLA
NLM
Huggins, E., Makhijani, N. A., Holland, M., Jones, H., Blount, J., Jung, S.-H., … Kishnani, P. S. (2023). Longitudinal follow up uncovers an early emerging phenotype in children with late-onset Pompe disease diagnosed via newborn screening. In Molecular Genetics and Metabolism (Vol. 138, pp. 107158–107158). Elsevier BV. https://doi.org/10.1016/j.ymgme.2022.107158
Huggins, Erin, Neelam A. Makhijani, Maggie Holland, Harrison Jones, Janet Blount, Seung-Hye Jung, Laura Case, and Priya S. Kishnani. “Longitudinal follow up uncovers an early emerging phenotype in children with late-onset Pompe disease diagnosed via newborn screening.” In Molecular Genetics and Metabolism, 138:107158–107158. Elsevier BV, 2023. https://doi.org/10.1016/j.ymgme.2022.107158.
Huggins E, Makhijani NA, Holland M, Jones H, Blount J, Jung S-H, et al. Longitudinal follow up uncovers an early emerging phenotype in children with late-onset Pompe disease diagnosed via newborn screening. In: Molecular Genetics and Metabolism. Elsevier BV; 2023. p. 107158–107158.
Huggins, Erin, et al. “Longitudinal follow up uncovers an early emerging phenotype in children with late-onset Pompe disease diagnosed via newborn screening.” Molecular Genetics and Metabolism, vol. 138, no. 2, Elsevier BV, 2023, pp. 107158–107158. Crossref, doi:10.1016/j.ymgme.2022.107158.
Huggins E, Makhijani NA, Holland M, Jones H, Blount J, Jung S-H, Case L, Kishnani PS. Longitudinal follow up uncovers an early emerging phenotype in children with late-onset Pompe disease diagnosed via newborn screening. Molecular Genetics and Metabolism. Elsevier BV; 2023. p. 107158–107158.
Published In
Molecular Genetics and Metabolism
DOI
ISSN
1096-7192
Publication Date
February 2023
Volume
138
Issue
2
Start / End Page
107158 / 107158
Publisher
Elsevier BV
Related Subject Headings
- Genetics & Heredity
- 3202 Clinical sciences
- 3105 Genetics
- 1103 Clinical Sciences