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Source: Revista de Neurologia
Condition: Hypertrophic Cardiomyopathy
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Total 2 results found since Jan 2013.
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 - February 15, 2018 Category: Neurology Authors: Nascimento A, Villalobos-Pinto E Tags: Rev Neurol Source Type: research
Variability in the clinical presentation of Pompe disease in infancy: two case reports and response to treatment with human recombinant enzyme.
CONCLUSION. GAA is the only authorized option for Pompe disease treatment; the effects observed are similar to the ones described in the literature, with excellent outcome in the hypertrophic cardiomyopathy but less effective in the skeletal muscle.
PMID: 25418145 [PubMed - in process]
Source: Revista de Neurologia - November 26, 2014 Category: Neurology Authors: Moreno-Medinilla E, Berzosa-Lopez R, Mora-Ramirez MD, Blasco-Alonso J, Martinez-Anton J Tags: Rev Neurol Source Type: research
