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

Giulia Paolella; Pasquale Pisano; Raffaele Albano; Lucio Cannaviello; Carolina Mauro; Gabriella Esposito; Pietro Vajro

doi:10.1186/1824-7288-38-64

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

Giulia Paolella, Pasquale Pisano, Raffaele Albano, Lucio Cannaviello, Carolina Mauro, Gabriella Esposito, Pietro Vajro

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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.

Original language	English
Article number	64
Journal	Italian Journal of Pediatrics
Volume	38
Issue number	1
DOIs	https://doi.org/10.1186/1824-7288-38-64
Publication status	Published - 2012

Keywords

Fatty liver
Hereditary fructose intolerance
Hypertransaminasemia
Muscular dystrophies

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1186/1824-7288-38-64

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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.",

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AU - Paolella, Giulia

AU - Pisano, Pasquale

AU - Albano, Raffaele

AU - Cannaviello, Lucio

AU - Mauro, Carolina

AU - Esposito, Gabriella

AU - Vajro, Pietro

PY - 2012

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KW - Fatty liver

KW - Hereditary fructose intolerance

KW - Hypertransaminasemia

KW - Muscular dystrophies

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

Abstract

Keywords

ASJC Scopus subject areas

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