Scholars@Duke publication: Early presentation with late-onset Pompe disease genotype due to a genetic modifier: Lessons from newborn screening

Early presentation with late-onset Pompe disease genotype due to a genetic modifier: Lessons from newborn screening

Publication , Conference

Michl, E; Bonello, K; Yin, SM; Kishnani, PS; Sacharow, S

Published in: Molecular Genetics and Metabolism

February 2022

Published version (DOI) Publisher Link

Duke Scholars

Author Priya Sunil Kishnani Pediatrics, Medical Genetics

Published In

Molecular Genetics and Metabolism

DOI

10.1016/j.ymgme.2021.11.214

ISSN

1096-7192

Publication Date

February 2022

Volume

135

Issue

Start / End Page

S83 / S83

Publisher

Elsevier BV

Related Subject Headings

Genetics & Heredity
3202 Clinical sciences
3105 Genetics
1103 Clinical Sciences

Citation

APA

Chicago

ICMJE

MLA

NLM

Michl, E., Bonello, K., Yin, S. M., Kishnani, P. S., & Sacharow, S. (2022). Early presentation with late-onset Pompe disease genotype due to a genetic modifier: Lessons from newborn screening. In Molecular Genetics and Metabolism (Vol. 135, pp. S83–S83). Elsevier BV. https://doi.org/10.1016/j.ymgme.2021.11.214

Michl, Emma, Kristin Bonello, Suellen Moli Yin, Priya S. Kishnani, and Stephanie Sacharow. “Early presentation with late-onset Pompe disease genotype due to a genetic modifier: Lessons from newborn screening.” In Molecular Genetics and Metabolism, 135:S83–S83. Elsevier BV, 2022. https://doi.org/10.1016/j.ymgme.2021.11.214.

Michl E, Bonello K, Yin SM, Kishnani PS, Sacharow S. Early presentation with late-onset Pompe disease genotype due to a genetic modifier: Lessons from newborn screening. In: Molecular Genetics and Metabolism. Elsevier BV; 2022. p. S83–S83.

Michl, Emma, et al. “Early presentation with late-onset Pompe disease genotype due to a genetic modifier: Lessons from newborn screening.” Molecular Genetics and Metabolism, vol. 135, no. 2, Elsevier BV, 2022, pp. S83–S83. Crossref, doi:10.1016/j.ymgme.2021.11.214.

Michl E, Bonello K, Yin SM, Kishnani PS, Sacharow S. Early presentation with late-onset Pompe disease genotype due to a genetic modifier: Lessons from newborn screening. Molecular Genetics and Metabolism. Elsevier BV; 2022. p. S83–S83.

Published In

Molecular Genetics and Metabolism

DOI

10.1016/j.ymgme.2021.11.214

ISSN

1096-7192

Publication Date

February 2022

Volume

135

Issue

Start / End Page

S83 / S83

Publisher

Elsevier BV

Related Subject Headings

Genetics & Heredity
3202 Clinical sciences
3105 Genetics
1103 Clinical Sciences