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A newborn screening dilemma: when to treat Pompe disease with c.-32-13T&gt/;G IVS splice site mutation

Publication ,  Conference
Bailey, LA; Rairikar, M; Desai, A; Kazi, Z; Case, L; Kishnani, P
Published in: Molecular Genetics and Metabolism
January 2017

Duke Scholars

Published In

Molecular Genetics and Metabolism

DOI

ISSN

1096-7192

Publication Date

January 2017

Volume

120

Issue

1-2

Start / End Page

S24 / S24

Publisher

Elsevier BV

Related Subject Headings

  • Genetics & Heredity
  • 1103 Clinical Sciences
 

Citation

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Chicago
ICMJE
MLA
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Bailey, L. A., Rairikar, M., Desai, A., Kazi, Z., Case, L., & Kishnani, P. (2017). A newborn screening dilemma: when to treat Pompe disease with c.-32-13T&gt/;G IVS splice site mutation. In Molecular Genetics and Metabolism (Vol. 120, pp. S24–S24). Elsevier BV. https://doi.org/10.1016/j.ymgme.2016.11.031
Bailey, Lauren A., Mugdha Rairikar, Ankit Desai, Zoheb Kazi, Laura Case, and Priya Kishnani. “A newborn screening dilemma: when to treat Pompe disease with c.-32-13T&gt/;G IVS splice site mutation.” In Molecular Genetics and Metabolism, 120:S24–S24. Elsevier BV, 2017. https://doi.org/10.1016/j.ymgme.2016.11.031.
Bailey LA, Rairikar M, Desai A, Kazi Z, Case L, Kishnani P. A newborn screening dilemma: when to treat Pompe disease with c.-32-13T&gt/;G IVS splice site mutation. In: Molecular Genetics and Metabolism. Elsevier BV; 2017. p. S24–S24.
Bailey, Lauren A., et al. “A newborn screening dilemma: when to treat Pompe disease with c.-32-13T&gt/;G IVS splice site mutation.” Molecular Genetics and Metabolism, vol. 120, no. 1–2, Elsevier BV, 2017, pp. S24–S24. Crossref, doi:10.1016/j.ymgme.2016.11.031.
Bailey LA, Rairikar M, Desai A, Kazi Z, Case L, Kishnani P. A newborn screening dilemma: when to treat Pompe disease with c.-32-13T&gt/;G IVS splice site mutation. Molecular Genetics and Metabolism. Elsevier BV; 2017. p. S24–S24.
Journal cover image

Published In

Molecular Genetics and Metabolism

DOI

ISSN

1096-7192

Publication Date

January 2017

Volume

120

Issue

1-2

Start / End Page

S24 / S24

Publisher

Elsevier BV

Related Subject Headings

  • Genetics & Heredity
  • 1103 Clinical Sciences