Disease progression in a pre-symptomatically treated patient with juvenile-onset Pompe disease - need for an earlier treatment?

Y-H Chien^{1

2}, N-C Lee^{1

2}, W-L Hwu^{1

2}, J-Y Fang¹

Affiliations

¹ Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
² Department of Pediatrics, National Taiwan University College of Medicine, Taipei, Taiwan.

Comment

Y-H Chien et al. Eur J Neurol. 2018 Oct.

. 2018 Oct;25(10):e111.

doi: 10.1111/ene.13730.

Y-H Chien^{1

2}, N-C Lee^{1

2}, W-L Hwu^{1

2}, J-Y Fang¹

¹ Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
² Department of Pediatrics, National Taiwan University College of Medicine, Taipei, Taiwan.

No abstract available

Keywords: Pompe disease; acid α-glucosidase; enzyme replacement therapy; magnetic resonance imaging; pre-symptomatic hyperCKaemia.

Comment on

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience.
van der Ploeg AT, Kruijshaar ME, Toscano A, Laforêt P, Angelini C, Lachmann RH, Pascual Pascual SI, Roberts M, Rösler K, Stulnig T, van Doorn PA, Van den Bergh PYK, Vissing J, Schoser B; European Pompe Consortium. van der Ploeg AT, et al. Eur J Neurol. 2017 Jun;24(6):768-e31. doi: 10.1111/ene.13285. Epub 2017 May 6. Eur J Neurol. 2017. PMID: 28477382