Fructose 1,6 diphosphatase deficiency in a Turkish infant.

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作者信息

Tavil Betül, Sipahi Tansu

出版信息

Eur J Pediatr. 2003 Oct;162(10):719-20. doi: 10.1007/s00431-003-1234-7. Epub 2003 Jul 25.

DOI:10.1007/s00431-003-1234-7

PMID:12898237

Abstract

摘要

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本文引用的文献

Rapid, simplified and sensitive method for screening fructose-1,6-diphosphatase deficiency by analyzing urinary metabolites in urease/direct preparations and gas chromatography-mass spectrometry in the selected-ion monitoring mode.

J Chromatogr B Biomed Sci Appl. 2000 Sep 1;746(1):75-82. doi: 10.1016/s0378-4347(00)00123-7.

Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity.与肝果糖-1,6-二磷酸酶活性缺乏相关的空腹低血糖和代谢性酸中毒。

Lancet. 1970 Jul 4;2(7662):13-6. doi: 10.1016/s0140-6736(70)92474-8.

Fructose-1,6-diphosphatase deficiency: a 20-year follow-up.

Am J Dis Child. 1989 Feb;143(2):140-2. doi: 10.1001/archpedi.1989.02150140022009.

Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency.

Eur J Pediatr. 1990 May;149(8):574-6. doi: 10.1007/BF01957696.

Clinical and biochemical observations on three cases of fructose-1,6-diphosphatase deficiency.

J Inherit Metab Dis. 1990;13(3):263-6. doi: 10.1007/BF01799368.

Fructose-1,6-diphosphatase deficiency in Israel.以色列的果糖-1,6-二磷酸酶缺乏症

Isr J Med Sci. 1991 Jan;27(1):1-4.

Recurrent attacks of ketotic acidosis associated with fructose-1,6-diphosphatase deficiency.与1,6-二磷酸果糖酶缺乏相关的酮症酸中毒反复发作。

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