Sudden deterioration in nonclassical infantile-onset Pompe disease responding to alglucosidase alfa infusion therapy: a case report
| Autor: | A. Chabas, L. Albajara, F. Alvarado, Manuel Gutierrez, Samuel I. Pascual-Pascual, P. Rubio |
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| Předmět: |
Anakinra
Pediatrics medicine.medical_specialty Time Factors Glycogen Storage Disease Type II business.industry alpha-Glucosidases Enzyme replacement therapy Disease Assisted ventilation Surgery Treatment Outcome Infusion therapy Acute respiratory insufficiency Genetics medicine Humans Female Infantile onset Child Respiratory Insufficiency business Alglucosidase alfa Genetics (clinical) medicine.drug |
| Zdroj: | Scopus-Elsevier |
| Popis: | A patient with atypical infantile Pompe disease suffered acute respiratory insufficiency at the age of 8 years which resulted in complete immobilization and dependence on assisted ventilation. Shortly after initiation of enzyme replacement therapy, she regained her mobility and, after 20 months of treatment, she now leads an almost normal life with limited restrictions. |
| Databáze: | OpenAIRE |
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