Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report. [electronic resource]
Producer: 20140408Description: S389-93 p. digitalISSN:- 1573-2665
- Biopsy
- Bradycardia -- diagnosis
- Cardiomyopathies -- diagnosis
- DNA Mutational Analysis
- Early Diagnosis
- Enzyme Replacement Therapy
- Female
- Genetic Predisposition to Disease
- Glycogen Storage Disease Type II -- complications
- Homozygote
- Humans
- Infant
- Infant, Newborn
- Mutation, Missense
- Phenotype
- Predictive Value of Tests
- Severity of Illness Index
- Time Factors
- Treatment Outcome
- alpha-Glucosidases -- deficiency
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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