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两例遗传性果糖不耐受症。

Two cases of hereditary fructose intolerance.

作者信息

Ananth N, Praveenkumar G S, Rao K Aravind, Kakkilaya Srinivas

机构信息

Dept. of Biochemistry, Kasturba Medical College, Center for Basic Sciences, Bejai, 575004 Mangalore.

出版信息

Indian J Clin Biochem. 2003 Jul;18(2):87-92. doi: 10.1007/BF02867372.

DOI:10.1007/BF02867372
PMID:23105397
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3453872/
Abstract

Hereditary fructose intolerance is a rare cause of hepatic cirrhosis in the young. The disorder has a reported frequency of 1 in 20000 live births and no case has been reported from India so far. We report two cases of hereditary fructose intolerance, both with bilateral cataracts and one with cirrhosis of the liver.

摘要

遗传性果糖不耐受是年轻人肝硬化的罕见病因。据报道,这种疾病在活产婴儿中的发病率为1/20000,迄今为止印度尚未有病例报告。我们报告两例遗传性果糖不耐受病例,两例均有双侧白内障,一例有肝硬化。

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Two cases of hereditary fructose intolerance.两例遗传性果糖不耐受症。
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Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India.遗传性果糖不耐受症的分子诊断:印度一个社区的奠基者突变
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本文引用的文献

1
Hereditary fructose intolerance presenting as Reye's-like syndrome: report of one case.
Acta Paediatr Taiwan. 2000 Jul-Aug;41(4):218-20.
2
Novel six-nucleotide deletion in the hepatic fructose-1,6-bisphosphate aldolase gene in a patient with hereditary fructose intolerance and enzyme structure-function implications.一名遗传性果糖不耐受患者肝脏果糖-1,6-二磷酸醛缩酶基因中出现新型六核苷酸缺失及其对酶结构-功能的影响
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Hereditary fructose intolerance.遗传性果糖不耐受症
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Adult hereditary fructose intolerance.成人遗传性果糖不耐受症
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Med Klin (Munich). 1991 Nov 15;86(11):574-81.
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Pathogenesis of acidosis in hereditary fructose intolerance.遗传性果糖不耐受症中酸中毒的发病机制。
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