A newborn screening dilemma: when to treat Pompe disease with c.-32-13T>/;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
APA
Chicago
ICMJE
MLA
NLM
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>/;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>/;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>/;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>/;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>/;G IVS splice site mutation. Molecular Genetics and Metabolism. Elsevier BV; 2017. p. S24–S24.
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