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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

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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.
Journal cover image

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