Corpus ID: 52154489

[Argentine consensus on late-onset Pompe's disease].

  title={[Argentine consensus on late-onset Pompe's disease].},
  author={A. Dubrovsky and E. Fulgenzi and E. L. de Vito and F. Barroso and A. Berardo and M. Bettini and D. Binaghi and E. Calabrese and D. Carles and M. Chaves and F. Chloca and E. Conti and J. Corderi and F. Di Gennaro and N{\'e}lida Ferrad{\'a}s and A. J{\'a}uregui and F. Lubieniecki and C. Mazia and M. Medina and L. Pirra and J. Politei and R. Reisin and A. L. Rosa and M. Rugiero and V. Salutto and A. Schenone and Mario Sussini and A. Taratuto},
  volume={78 Suppl 1},
Pompe's disease (PD) is an infrequent metabolic autosomic recessive disorder produced by the lack or deficiency of the acid alpha-glucosidase lysosomal enzyme in tissues of involved individuals. Delayed-onset PD is considered whenever symptoms onset start after one year of age. We present an update of the recommendations for the management of delayed-onset PD, taking as reference the guidelines from the Argentine Consensus for diagnosis, treatment and follow-up of PD published in 2013. The… Expand
1 Citations
Central drive and ventilatory failure in late-onset Pompe disease: At the gates of a new phenotype
It is necessary to rethink what is meant by "asymptomatic Pompe disease" and propose a new phenotype with its therapeutic implications and the recognition of this new phenotype of predominant central alveolar hypoventilation in Pompe disease will improve the understanding of the underlying mechanisms of ventilatory failure. Expand