Literature DB >> 24706590

Prominent vacuolation of the eyelid levator muscle in an early-treated child with infantile-onset Pompe disease.

Yin-Hsiu Chien1, Ni-Chung Lee, Yueh-Ju Tsai, Beth L Thurberg, Fuu-Jen Tsai, Wuh-Liang Hwu.   

Abstract

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Year:  2014        PMID： 24706590     DOI： 10.1002/mus.24257

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN： 0148-639X            Impact factor:   3.217


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  3 in total

1.  Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease.

Authors:  Yin-Hsiu Chien; Wuh-Liang Hwu; Ni-Chung Lee; Fuu-Jen Tsai; Dwight D Koeberl; Wen-Hui Tsai; Pao-Chin Chiu; Chaw-Liang Chang
Journal:  Mol Genet Metab Rep       Date:  2017-04-25

2.  Autopsy pathology of infantile neurovisceral ASMD (Niemann-Pick Disease type A): Clinicopathologic correlations of a case report.

Authors:  Beth L Thurberg
Journal:  Mol Genet Metab Rep       Date:  2020-07-16

3.  Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study.

Authors:  Steven Shinn-Forng Peng; Wuh-Liang Hwu; Ni-Chung Lee; Fuu-Jen Tsai; Wen-Hui Tsai; Yin-Hsiu Chien
Journal:  Orphanet J Rare Dis       Date:  2016-05-17       Impact factor: 4.123
  3 in total

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