Infantile-onset Pompe disease with neonatal debut: A case report and literature review.
Martínez, Miriam
Infantile-onset Pompe disease with neonatal debut: A case report and literature review. [electronic resource] - Medicine Dec 2017 - e9186 p. digital
Publication Type: Case Reports; Journal Article; Review
1536-5964
10.1097/MD.0000000000009186 doi
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
Infantile-onset Pompe disease with neonatal debut: A case report and literature review. [electronic resource] - Medicine Dec 2017 - e9186 p. digital
Publication Type: Case Reports; Journal Article; Review
1536-5964
10.1097/MD.0000000000009186 doi
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