Infantile-onset Pompe disease with neonatal debut: A case report and literature review. [electronic resource]
Producer: 20180214Description: e9186 p. digitalISSN:- 1536-5964
- Biopsy, Needle
- Cardiomyopathy, Hypertrophic -- etiology
- Disease Progression
- Fatal Outcome
- Glycogen Storage Disease Type II -- complications
- Homozygote
- Humans
- Immunohistochemistry
- Infant, Newborn
- Infant, Newborn, Diseases -- diagnosis
- Male
- Mutation
- Rare Diseases
- Risk Assessment
- Severity of Illness Index
- Ventricular Fibrillation -- diagnosis
- alpha-Glucosidases -- genetics
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Publication Type: Case Reports; Journal Article; Review
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