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


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.

SUBMITTER: Paolella G 

PROVIDER: S-EPMC3502262 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature

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

Paolella Giulia G   Pisano Pasquale P   Albano Raffaele R   Cannaviello Lucio L   Mauro Carolina C   Esposito Gabriella G   Vajro Pietro P  

Italian journal of pediatrics 20121031


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. ...[more]

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