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Three cases of familial pseudodominance in Pompe disease: Are current practices missing diagnostic and treatment opportunities?

Publication ,  Conference
Austin, S; Bailey, L; Sullivan, J; Bailey, C; Viskochill, D; Kishnani, P
Published in: Molecular Genetics and Metabolism
February 2016
Published version (DOI) Publisher Link

Duke Scholars

Priya Sunil Kishnani
Author Priya Sunil Kishnani Pediatrics, Medical Genetics

Published In

Molecular Genetics and Metabolism

DOI

10.1016/j.ymgme.2015.12.184

ISSN

1096-7192

Publication Date

February 2016

Volume

117

Issue

2

Start / End Page

S22 / S23

Publisher

Elsevier BV

Related Subject Headings

  • Genetics & Heredity
  • 3202 Clinical sciences
  • 3105 Genetics
  • 1103 Clinical Sciences
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Austin, S., Bailey, L., Sullivan, J., Bailey, C., Viskochill, D., & Kishnani, P. (2016). Three cases of familial pseudodominance in Pompe disease: Are current practices missing diagnostic and treatment opportunities? In Molecular Genetics and Metabolism (Vol. 117, pp. S22–S23). Elsevier BV. https://doi.org/10.1016/j.ymgme.2015.12.184
Austin, Stephanie, Lauren Bailey, Jennifer Sullivan, Carrie Bailey, David Viskochill, and Priya Kishnani. “Three cases of familial pseudodominance in Pompe disease: Are current practices missing diagnostic and treatment opportunities?” In Molecular Genetics and Metabolism, 117:S22–23. Elsevier BV, 2016. https://doi.org/10.1016/j.ymgme.2015.12.184.
Austin S, Bailey L, Sullivan J, Bailey C, Viskochill D, Kishnani P. Three cases of familial pseudodominance in Pompe disease: Are current practices missing diagnostic and treatment opportunities? In: Molecular Genetics and Metabolism. Elsevier BV; 2016. p. S22–3.
Austin, Stephanie, et al. “Three cases of familial pseudodominance in Pompe disease: Are current practices missing diagnostic and treatment opportunities?” Molecular Genetics and Metabolism, vol. 117, no. 2, Elsevier BV, 2016, pp. S22–23. Crossref, doi:10.1016/j.ymgme.2015.12.184.
Austin S, Bailey L, Sullivan J, Bailey C, Viskochill D, Kishnani P. Three cases of familial pseudodominance in Pompe disease: Are current practices missing diagnostic and treatment opportunities? Molecular Genetics and Metabolism. Elsevier BV; 2016. p. S22–S23.
Journal cover image

Published In

Molecular Genetics and Metabolism

DOI

10.1016/j.ymgme.2015.12.184

ISSN

1096-7192

Publication Date

February 2016

Volume

117

Issue

2

Start / End Page

S22 / S23

Publisher

Elsevier BV

Related Subject Headings

  • Genetics & Heredity
  • 3202 Clinical sciences
  • 3105 Genetics
  • 1103 Clinical Sciences