Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0231835 (tachypnea)
2,543 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
...
PMID:Tachypnea of infancy as the first sign of Sanfilippo syndrome. 2511