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J Pediatr. 2000 Aug;137(2):283-5.

Identification of two subtypes of infantile acid maltase deficiency.

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  • 1Department of Pediatrics, North Shore University Hospital, New York University School of Medicine, Manhasset, New York 11030, USA.


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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