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...

Descripción completa

Detalles Bibliográficos
Autores principales: Choi, Hae-Won, Lee, Yeoun Joo, Oh, Seak Hee, Kim, Kyung Mo, Ryu, Jeong-Min, Lee, Beom Hee, Kim, Gu-Hwan, Yoo, Han-Wook
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 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
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3286731/
https://www.ncbi.nlm.nih.gov/pubmed/22375183
http://dx.doi.org/10.5009/gnl.2012.6.1.126

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3286731/
https://www.ncbi.nlm.nih.gov/pubmed/22375183
http://dx.doi.org/10.5009/gnl.2012.6.1.126

Ejemplares similares