Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T > G “late-onset” GAA variant
Publication
, Conference
Austin, S; Rairikar, M; Case, L; Bailey, L; Kazi, Z; Desai, A; Berrier, K; Coats, J; Gandy, R; Quinones, R; Kishnani, P
Published in: Molecular Genetics and Metabolism
February 2018
Duke Scholars
Published In
Molecular Genetics and Metabolism
DOI
ISSN
1096-7192
Publication Date
February 2018
Volume
123
Issue
2
Start / End Page
S21 / S21
Publisher
Elsevier BV
Related Subject Headings
- Genetics & Heredity
- 3202 Clinical sciences
- 3105 Genetics
- 1103 Clinical Sciences
Citation
APA
Chicago
ICMJE
MLA
NLM
Austin, S., Rairikar, M., Case, L., Bailey, L., Kazi, Z., Desai, A., … Kishnani, P. (2018). Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T > G “late-onset” GAA variant. In Molecular Genetics and Metabolism (Vol. 123, pp. S21–S21). Elsevier BV. https://doi.org/10.1016/j.ymgme.2017.12.027
Austin, Stephanie, Mugdha Rairikar, Laura Case, Lauren Bailey, Zoheb Kazi, Ankit Desai, Kathryn Berrier, et al. “Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T > G “late-onset” GAA variant.” In Molecular Genetics and Metabolism, 123:S21–S21. Elsevier BV, 2018. https://doi.org/10.1016/j.ymgme.2017.12.027.
Austin S, Rairikar M, Case L, Bailey L, Kazi Z, Desai A, et al. Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T > G “late-onset” GAA variant. In: Molecular Genetics and Metabolism. Elsevier BV; 2018. p. S21–S21.
Austin, Stephanie, et al. “Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T > G “late-onset” GAA variant.” Molecular Genetics and Metabolism, vol. 123, no. 2, Elsevier BV, 2018, pp. S21–S21. Crossref, doi:10.1016/j.ymgme.2017.12.027.
Austin S, Rairikar M, Case L, Bailey L, Kazi Z, Desai A, Berrier K, Coats J, Gandy R, Quinones R, Kishnani P. Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T > G “late-onset” GAA variant. Molecular Genetics and Metabolism. Elsevier BV; 2018. p. S21–S21.
Published In
Molecular Genetics and Metabolism
DOI
ISSN
1096-7192
Publication Date
February 2018
Volume
123
Issue
2
Start / End Page
S21 / S21
Publisher
Elsevier BV
Related Subject Headings
- Genetics & Heredity
- 3202 Clinical sciences
- 3105 Genetics
- 1103 Clinical Sciences