- A Novel Frameshift Mutation of the ALDOB Gene in a Korean Girl Presenting with Recurrent Hepatitis Diagnosed as Hereditary Fructose Intolerance
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Choi HW, Lee YJ, Oh SH, Kim KM, Ryu JM, Lee BH, Kim GH, Yoo HW
- KMID: 2167375
- Gut Liver.
- 2012 Jan;6(1):126-128.
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... -
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