[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: Nascimento A, Villalobos-Pinto E Tags: Rev Neurol Source Type: research
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