Scholars@Duke publication: Blood-based diagnostic testing for Pompe disease: consistency between GAA enzyme activity in dried blood spots and GAA gene sequencing results.

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Blood-based diagnostic testing for Pompe disease: consistency between GAA enzyme activity in dried blood spots and GAA gene sequencing results.

Publication , Journal Article

Goldstein, JL; Dickerson, G; Kishnani, PS; Rehder, C; Bali, DS

Published in: Muscle Nerve

May 2014

Published version (DOI) Link to item

Duke Scholars

Author Rebeccah Catherine Rehder Pathology

Author Priya Sunil Kishnani Pediatrics, Medical Genetics

Author Deeksha Sarihyan Bali Pediatrics, Medical Genetics

Published In

Muscle Nerve

DOI

10.1002/mus.24149

EISSN

1097-4598

Publication Date

May 2014

Volume

49

Issue

5

Start / End Page

775 / 776

Location

United States

Related Subject Headings

alpha-Glucosidases
Young Adult
Sequence Analysis, DNA
Neurology & Neurosurgery
Infant
Humans
Glycogen Storage Disease Type II
Enzyme Assays
Child, Preschool
Child

Citation

APA

Chicago

ICMJE

MLA

NLM

Goldstein, J. L., Dickerson, G., Kishnani, P. S., Rehder, C., & Bali, D. S. (2014). Blood-based diagnostic testing for Pompe disease: consistency between GAA enzyme activity in dried blood spots and GAA gene sequencing results. Muscle Nerve, 49(5), 775–776. https://doi.org/10.1002/mus.24149

Goldstein, Jennifer L., Gwen Dickerson, Priya S. Kishnani, Catherine Rehder, and Deeksha S. Bali. “Blood-based diagnostic testing for Pompe disease: consistency between GAA enzyme activity in dried blood spots and GAA gene sequencing results.” Muscle Nerve 49, no. 5 (May 2014): 775–76. https://doi.org/10.1002/mus.24149.

Goldstein JL, Dickerson G, Kishnani PS, Rehder C, Bali DS. Blood-based diagnostic testing for Pompe disease: consistency between GAA enzyme activity in dried blood spots and GAA gene sequencing results. Muscle Nerve. 2014 May;49(5):775–6.

Goldstein, Jennifer L., et al. “Blood-based diagnostic testing for Pompe disease: consistency between GAA enzyme activity in dried blood spots and GAA gene sequencing results.” Muscle Nerve, vol. 49, no. 5, May 2014, pp. 775–76. Pubmed, doi:10.1002/mus.24149.

Goldstein JL, Dickerson G, Kishnani PS, Rehder C, Bali DS. Blood-based diagnostic testing for Pompe disease: consistency between GAA enzyme activity in dried blood spots and GAA gene sequencing results. Muscle Nerve. 2014 May;49(5):775–776.

Journal cover image

Published In

Muscle Nerve

DOI

10.1002/mus.24149

EISSN

1097-4598

Publication Date

May 2014

Volume

49

Issue

5

Start / End Page

775 / 776

Location

United States

Related Subject Headings

alpha-Glucosidases
Young Adult
Sequence Analysis, DNA
Neurology & Neurosurgery
Infant
Humans
Glycogen Storage Disease Type II
Enzyme Assays
Child, Preschool
Child