A Novel Frameshift Mutation of the ALDOB Gene in a Korean Girl Presenting with Recurrent Hepatitis Diagnosed as Hereditary Fructose Intolerance

Hereditary fructose intolerance is an autosomal recessive disorder that is caused by a deficiency in fructose-1-phosphate aldolase (Aldolase B). Children can present with hypoglycemia, jaundice, elevated liver enzymes and hepatomegaly after intake of dietary fructose. Long-term intake of fructose in...

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Autors principals: Choi, Hae-Won, Lee, Yeoun Joo, Oh, Seak Hee, Kim, Kyung Mo, Ryu, Jeong-Min, Lee, Beom Hee, Kim, Gu-Hwan, Yoo, Han-Wook
Format: Artigo
Idioma:Inglês
Publicat: The Korean Society of Gastroenterology; the Korean Society of Gastrointestinal Endoscopy; the Korean Association for the Study of the Liver; the Korean Society of Neurogastroenterology and Motility; Korean Association for the Study of Intestinal Diseases; Korean College of Helicobacter and Upper Gastrointestinal Research; Korean Pancreatobiliary Association 2012
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3286731/
https://ncbi.nlm.nih.gov/pubmed/22375183
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5009/gnl.2012.6.1.126
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