Journal
JOURNAL OF PEDIATRICS
Volume 137, Issue 2, Pages 283-285Publisher
MOSBY-ELSEVIER
DOI: 10.1067/mpd.2000.107112
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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.
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