Literature DB >> 22246895

How common is misdiagnosis in late-onset Pompe disease?

Lisa D Hobson-Webb, Priya S Kishnani.   

Abstract

Mesh：

Year:  2012        PMID： 22246895     DOI： 10.1002/mus.22296

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


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  5 in total

1.  Newborn screening for Pompe disease: impact on families.

Authors:  B Pruniski; E Lisi; N Ali
Journal:  J Inherit Metab Dis       Date:  2018-03-28       Impact factor: 4.982

2.  Effect of enzyme replacement therapy in late onset Pompe disease: open pilot study of 48 weeks follow-up.

Authors:  Jin-Sung Park; Hye-Gyung Kim; Jin-Hong Shin; Young-Chul Choi; Dae-Seong Kim
Journal:  Neurol Sci       Date:  2014-11-12       Impact factor: 3.307

Review 3.  Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature.

Authors:  Gauthier Remiche; Dario Ronchi; Francesca Magri; Costanza Lamperti; Andreina Bordoni; Maurizio Moggio; Nereo Bresolin; Giacomo P Comi
Journal:  J Neurol       Date:  2013-10-25       Impact factor: 4.849

4.  Extent, impact, and predictors of diagnostic delay in Pompe disease: A combined survey approach to unveil the diagnostic odyssey.

Authors:  Florian B Lagler; Angelika Moder; Marianne Rohrbach; Julia Hennermann; Eugen Mengel; Seyfullah Gökce; Thomas Hundsberger; Kai M Rösler; Nesrin Karabul; Martina Huemer
Journal:  JIMD Rep       Date:  2019-07-17

5.  Benefit of 5 years of enzyme replacement therapy in advanced late onset Pompe. A case report of misdiagnosis for three decades with acute respiratory failure at presentation.

Authors:  Mandat Maharaj; David L Skidmore; Sidney E Croul; David J Brake; Hanns Lochmuller
Journal:  Mol Genet Metab Rep       Date:  2022-07-18
  5 in total

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