[A new phenotype of infantile-onset Pompe disease].

CONCLUSIONS: Both cases illustrate the new phenotype of infantile-onset Pompe disease treated with ERT. Despite the motor limitations and respiratory involvement presented by the patients, both survival and autonomy have increased. PMID: 29435968 [PubMed - in process]
Source: Revista de Neurologia - Category: Neurology Authors: Tags: Rev Neurol Source Type: research