NFDI4DS | UHH-SEMS - Publication Details

ORCID: 0000-0002-1937-9503

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A5007418387

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Duke Medical Center
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

OPENALEX - Publications

Mugdha Rairikar Laura E. Case Lauren A. Bailey Zoheb B. Kazi Ankit K. Desai and 5 more

10.1016/j.ymgme.2017.09.008 article EN Molecular Genetics and Metabolism 2017-09-20

Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T > G “late-onset” GAA variant

OPENALEX - Publications

Stephanie Austin Mugdha Rairikar Laura E. Case Lauren Bailey Zoheb B. Kazi and 6 more

10.1016/j.ymgme.2017.12.027 article EN Molecular Genetics and Metabolism 2018-02-01

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