Work

Identification of two subtypes of infantile acid maltase deficiency

Year: 2000

Type: article

Abstract: 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.

Source: The Journal of Pediatrics

DOI: 10.1067/mpd.2000.107112

Authors: Alfred E. Slonim, Linda Bulone, Steven Ritz, Teresia Goldberg, Agnes Chen, Frank Martiniuk

Institutions: North Shore University Hospital, New York University

Language: English

Topic: Glycogen Storage Diseases and Myoclonus

Subfield: Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $4,570