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American Academy of Pediatrics, Pediatrics, 3(134), p. e884-e888, 2014

DOI: 10.1542/peds.2013-2765

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Tachypnea of Infancy as the First Sign of Sanfilippo Syndrome

Journal article published in 2014 by Jackie Chiang, Julian Raiman, Ernest Cutz, Melinda Solomon, Sharon Dell ORCID
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

This report describes the first known case of Mucopolysaccharidosis type IIIA presenting with respiratory symptoms and characteristic lung pathology. This case highlights under-recognized areas of systemic involvement and earlier modes of presentation in lysosomal storage disorders as well as the importance of investigating infants who have persistent tachypnea.