果糖-1,6-二磷酸酶缺乏症：具有正常白细胞酶活性的严重表型。 - Suppr

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超能文献

Fructose-1,6-bisphosphatase deficiency: severe phenotype with normal leukocyte enzyme activity.

作者信息

Besley G T, Walter J H, Lewis M A, Chard C R, Addison G M

机构信息

Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, UK.

出版信息

J Inherit Metab Dis. 1994;17(3):333-5. doi: 10.1007/BF00711822.

DOI:10.1007/BF00711822

PMID:7807945

Abstract

摘要

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Fructose-1,6-bisphosphatase deficiency: severe phenotype with normal leukocyte enzyme activity.果糖-1,6-二磷酸酶缺乏症：具有正常白细胞酶活性的严重表型。

J Inherit Metab Dis. 1994;17(3):333-5. doi: 10.1007/BF00711822.

Diagnosis of fructose-1,6-bisphosphatase deficiency using leukocytes: normal leukocyte enzyme activity in three female patients.利用白细胞诊断果糖-1,6-二磷酸酶缺乏症：三名女性患者白细胞酶活性正常

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[Hypoglycemia and hyperlactacidemia in relation with a new case of fructose-1,6-diphosphatase deficiency. Determination of enzymatic activity in leukocytes].[与一例新的果糖-1,6-二磷酸酶缺乏症相关的低血糖和高乳酸血症。白细胞中酶活性的测定]

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本文引用的文献

Urinary sugar phosphates and related organic acids in fructose-1,6-diphosphatase deficiency.

J Inherit Metab Dis. 1993;16(2):408-14. doi: 10.1007/BF00710290.

Isolation of a human liver fructose-1,6-bisphosphatase cDNA and expression of the protein in Escherichia coli. Role of ASP-118 and ASP-121 in catalysis.人肝脏果糖-1,6-二磷酸酶cDNA的分离及其在大肠杆菌中的蛋白表达。ASP-118和ASP-121在催化中的作用。

J Biol Chem. 1993 May 5;268(13):9466-72.

Clin Investig. 1993 Feb;71(2):115-8. doi: 10.1007/BF00179991.

Purification of human liver fructose-1,6-bisphosphatase.

Biochim Biophys Acta. 1980 Aug 7;614(2):407-12. doi: 10.1016/0005-2744(80)90230-2.

Glycerol-3-phosphate excretion in fructose-1,6-diphosphatase deficiency.

J Inherit Metab Dis. 1986;9(4):388-92. doi: 10.1007/BF01800490.

Biochemical observations on a case of hepatic fructose-1,6-diphosphatase deficiency.

J Inherit Metab Dis. 1985;8(4):169-73. doi: 10.1007/BF01805428.

Fructose-1,6-diphosphatase deficiency: glycerol excretion during fasting test.果糖-1,6-二磷酸酶缺乏症：禁食试验期间的甘油排泄

Eur J Pediatr. 1985 Jul;144(2):203-4. doi: 10.1007/BF00451915.

Neonatal hyperlactacidemia and hypoglycemia caused by delayed maturation of fructose-1,6-diphosphatase activity.

J Pediatr. 1988 Nov;113(5):898-900. doi: 10.1016/s0022-3476(88)80028-3.

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.

Letter: FDPase activity in human leukocytes.

N Engl J Med. 1975 Jan 23;292(4):212-3. doi: 10.1056/NEJM197501232920418.

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