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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.
2
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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3
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Severe acidosis in a neonate with pulmonary valve stenosis: a possible stress inducer of a fatal syndrome of fructose-1, 6-biphosphatase and aldolase deficiency.
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Eur J Pediatr. 1990 May;149(8):574-6. doi: 10.1007/BF01957696.
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Urinary sugar phosphates and related organic acids in fructose-1,6-diphosphatase deficiency.
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8
Letter: Activity of fructose-1,6-diphosphatase in human leukocytes.
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[Fructose-1,6-diphosphatase deficiency. Clinical aspects and diagnosis based on a case report].[果糖-1,6-二磷酸酶缺乏症。基于一例病例报告的临床特征与诊断]
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Impaired ketogenesis in fructose-1,6-bisphosphatase deficiency: a pitfall in the investigation of hypoglycaemia.
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International practices in the dietary management of fructose 1-6 biphosphatase deficiency.果糖-1,6-二磷酸酶缺乏症的饮食管理国际实践。
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Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency.1,6-二磷酸果糖酶缺乏症患者的临床与分子特征
Int J Mol Sci. 2017 Apr 18;18(4):857. doi: 10.3390/ijms18040857.
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Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients.

本文引用的文献

1
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.
2
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.
3
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
果糖1,6-二磷酸酶缺乏症：法国患者的临床、生化及遗传学特征
J Inherit Metab Dis. 2015 Sep;38(5):881-7. doi: 10.1007/s10545-014-9804-6. Epub 2015 Jan 20.
4
Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency.阿拉伯果糖-1,6-二磷酸酶缺乏症患者中新型 FBP1 基因突变。
Eur J Pediatr. 2009 Dec;168(12):1467-71. doi: 10.1007/s00431-009-0953-9. Epub 2009 Mar 4.
5
Diagnosis of fructose-1,6-bisphosphatase deficiency using cultured lymphocyte fraction: a secure and noninvasive alternative to liver biopsy.利用培养淋巴细胞组分诊断果糖-1,6-二磷酸酶缺乏症：一种安全且非侵入性的肝活检替代方法。
J Inherit Metab Dis. 2002 Feb;25(1):41-6. doi: 10.1023/a:1015129616599.
6
Novel mutations in patients with fructose-1,6-bisphosphatase deficiency.1,6-二磷酸果糖酶缺乏症患者中的新突变
J Inherit Metab Dis. 1999 Apr;22(2):132-8. doi: 10.1023/a:1005489617843.
7
Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.日本果糖-1,6-二磷酸酶缺乏症患者基因突变的鉴定。
Am J Hum Genet. 1997 Oct;61(4):852-61. doi: 10.1086/514875.
8
Disorders of gluconeogenesis.糖异生紊乱。
J Inherit Metab Dis. 1996;19(4):470-7. doi: 10.1007/BF01799108.
Clin Investig. 1993 Feb;71(2):115-8. doi: 10.1007/BF00179991.
4
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.
5
Glycerol-3-phosphate excretion in fructose-1,6-diphosphatase deficiency.
J Inherit Metab Dis. 1986;9(4):388-92. doi: 10.1007/BF01800490.
6
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.
7
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.
8
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.
9
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.
10
Letter: FDPase activity in human leukocytes.
N Engl J Med. 1975 Jan 23;292(4):212-3. doi: 10.1056/NEJM197501232920418.