Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance

Autor: Paolella Giulia, Pisano Pasquale, Albano Raffaele, Cannaviello Lucio, Mauro Carolina, Esposito Gabriella, Vajro Pietro
Jazyk: angličtina
Rok vydání: 2012
Předmět:
Zdroj: Italian Journal of Pediatrics, Vol 38, Iss 1, p 64 (2012)
Druh dokumentu: article
ISSN: 1824-7288
1720-8424
DOI: 10.1186/1824-7288-38-64
Popis: Abstract We report a case with the association of well self-compensated hereditary fructose intolerance and still poorly symptomatic Duchenne type muscular dystrophy. This case illustrates the problems of a correct diagnosis in sub-clinical patients presenting with “cryptogenic” hypertransaminasemia.
Databáze: Directory of Open Access Journals