转铁蛋白等电聚焦和血浆溶酶体酶活性在遗传性果糖不耐受症诊断及随访中的应用 - Suppr

Transferrin isoelectric focusing and plasma lysosomal enzyme activities in the diagnosis and follow-up of hereditary fructose intolerance.

作者信息

Moraitou Marina, Dimitriou Evangelia, Mavridou Irene, Michelakakis Helen, Georgouli Helen, Ploski Rafal, Pollak Agnieszka

出版信息

Clin Chim Acta. 2012 Oct 9;413(19-20):1714-5. doi: 10.1016/j.cca.2012.06.010. Epub 2012 Jun 8.

DOI:10.1016/j.cca.2012.06.010

PMID:22713622

Abstract

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Transferrin isoelectric focusing and plasma lysosomal enzyme activities in the diagnosis and follow-up of hereditary fructose intolerance.转铁蛋白等电聚焦和血浆溶酶体酶活性在遗传性果糖不耐受症诊断及随访中的应用

Clin Chim Acta. 2012 Oct 9;413(19-20):1714-5. doi: 10.1016/j.cca.2012.06.010. Epub 2012 Jun 8.

[Hereditary fructose intolerance. Description of a clinical case with verified enzyme deficiency].[遗传性果糖不耐受症。一例经证实存在酶缺乏的临床病例描述]

Minerva Pediatr. 1979 Dec 31;31(24):1781-6.

[Hereditary fructose intolerance (author's transl)].遗传性果糖不耐受症（作者译）

Monatsschr Kinderheilkd (1902). 1977 Jul;125(7):677-86.

Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance.儿童遗传性果糖不耐受症中果糖每日微量摄入与肝损伤。

Nutrients. 2019 Oct 7;11(10):2397. doi: 10.3390/nu11102397.

[Hereditary fructose intolerance].[遗传性果糖不耐受症]

Nihon Rinsho. 2006 Sep 28;Suppl 3:220-3.

Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfalls.遗传性果糖不耐受中的转铁蛋白低糖化：利用线索并避免陷阱

J Inherit Metab Dis. 2007 Jun;30(3):407. doi: 10.1007/s10545-007-0569-z. Epub 2007 Apr 24.

Molecular diagnosis of hereditary fructose intolerance.遗传性果糖不耐受症的分子诊断

Arch Intern Med. 1992 Apr;152(4):881.

Structural mutation of aldolase B in hereditary fructose intolerance: electrofocusing results.遗传性果糖不耐受症中醛缩酶B的结构突变：等电聚焦结果

Monogr Hum Genet. 1978;9:2-6. doi: 10.1159/000401600.

Is medical nutrition therapy (MNT) the same for hereditary vs dietary fructose intolerance?遗传性果糖不耐受与膳食果糖不耐受的医学营养治疗（MNT）相同吗？

J Am Diet Assoc. 2010 Jul;110(7):1128. doi: 10.1016/j.jada.2010.05.016.

Aldolase B and fructose intolerance.醛缩酶B与果糖不耐受症。

FASEB J. 1994 Jan;8(1):62-71. doi: 10.1096/fasebj.8.1.8299892.

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The role of the analysis of sialotransferrin isoforms in the management of hereditary fructose intolerance: a systematic review.唾液转铁蛋白异构体分析在遗传性果糖不耐受管理中的作用：一项系统评价

J Diabetes Metab Disord. 2024 Dec 27;24(1):27. doi: 10.1007/s40200-024-01527-y. eCollection 2025 Jun.

Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum.酷似黏脂贮积症生化表型的遗传性果糖不耐受：血清溶酶体酶活性升高继发原因的文献综述

Am J Med Genet A. 2017 Feb;173(2):501-509. doi: 10.1002/ajmg.a.38023. Epub 2016 Oct 31.

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Transferrin isoelectric focusing and plasma lysosomal enzyme activities in the diagnosis and follow-up of hereditary fructose intolerance.

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