2010
DOI: 10.1111/j.1442-200x.2010.03073.x
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Case of glycogen storage disease type VI (phosphorylase deficiency) complicated by focal nodular hyperplasia

Abstract: Key words focal nodular hyperplasia, glycogen phosphorylase, glycogen storage disease.Although it is well known that hepatic tumors often develop in patients with glycogen storage disease (GSD) types Ia and III, the formation of these tumors has not been reported in other forms of hepatic GSD. In this report, a patient with GSD type VI (phosphorylase deficiency; OMIM 232700) complicated with a hepatic benign tumor, focal nodular hyperplasia (FNH), is presented. This case indicates that regular check-ups for he… Show more

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Cited by 24 publications
(16 citation statements)
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“…GSD‐VI is an inheritable metabolic disorder characterized by hepatomegaly, mild fasting hypoglycemia, and hyperketosis during fasting . GSD‐VI is frequently underdiagnosed because of its mild phenotype.…”
Section: Discussionmentioning
confidence: 99%
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“…GSD‐VI is an inheritable metabolic disorder characterized by hepatomegaly, mild fasting hypoglycemia, and hyperketosis during fasting . GSD‐VI is frequently underdiagnosed because of its mild phenotype.…”
Section: Discussionmentioning
confidence: 99%
“…GSD‐VI is frequently underdiagnosed because of its mild phenotype. However, severe complications, including liver fibrosis, liver tumors, and cirrhosis, have been reported in patients with GSD‐VI . Currently, there are limited resources available to study this disease besides clinical case reports.…”
Section: Discussionmentioning
confidence: 99%
See 3 more Smart Citations