Identification of two subtypes of infantile acid maltase deficiency
| Autor: | Teresia Goldberg, Linda Bulone, Steven Ritz, Frank Martiniuk, Alfred E. Slonim, Agnes Chen |
|---|---|
| Rok vydání: | 2000 |
| Předmět: |
Male
medicine.medical_specialty medicine.medical_treatment Generalized muscle weakness Cardiomyopathy Assisted ventilation Gastroenterology Internal medicine medicine Intubation Maltase deficiency Humans Age of Onset Alglucosidase alfa Left ventricular outflow obstruction business.industry Glycogen Storage Disease Type II Hypertrophic cardiomyopathy Infant medicine.disease Prognosis Endocrinology Pediatrics Perinatology and Child Health cardiovascular system Female New York City business medicine.drug |
| Zdroj: | The Journal of pediatrics. 137(2) |
| ISSN: | 0022-3476 |
| Popis: | Infantile patients with acid maltase deficiency have severe hypertrophic cardiomyopathy, left ventricular outflow obstruction, and generalized muscle weakness and die before 1 year of age. We identified 12 infants with acid maltase deficiency who had a similar clinical presentation but less severe cardiomyopathy and absence of left ventricular outflow obstruction, and 9 of 12 had longer survival with assisted ventilation and supplemental intubation. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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