A newborn screening dilemma: when to treat Pompe disease...

Molecular Genetics and Metabolism 2017 / 01 Vol. 120; Iss. 1-2

A newborn screening dilemma: when to treat Pompe disease with c.-32-13T&gt/;G IVS splice site mutation

Bailey, Lauren A, Rairikar, Mugdha, Desai, Ankit, Kazi, Zoheb, Case, Laura, Kishnani, Priya
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Volume:
120
Language:
english
Journal:
Molecular Genetics and Metabolism
DOI:
10.1016/j.ymgme.2016.11.031
Date:
January, 2017
File:
PDF, 45 KB
english, 2017
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