Literature DB >> 7807945

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

G T Besley1, J H Walter, M A Lewis, C R Chard, G M Addison.   

Abstract

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Year:  1994        PMID： 7807945     DOI： 10.1007/bf00711822

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  11 in total

1.  Letter: Activity of fructose-1,6-diphosphatase in human leukocytes.

Authors:  J Schrijver; F A Hommes
Journal:  N Engl J Med       Date:  1975-06-12       Impact factor: 91.245

2.  Letter: FDPase activity in human leukocytes.

Authors:  J Cahill; M E Kirtley
Journal:  N Engl J Med       Date:  1975-01-23       Impact factor: 91.245

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

Authors:  P Bührdel; H J Böhme; L Didt
Journal:  Eur J Pediatr       Date:  1990-05       Impact factor: 3.183

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

Authors:  H Kodama; I Okabe; Y Gunji; M Yanagisawa
Journal:  J Pediatr       Date:  1988-11       Impact factor: 4.406

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

Authors:  S Krywawych; G Katz; A M Lawson; S Wyatt; D P Brenton
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

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

Authors:  A Dzugaj; M Kochman
Journal:  Biochim Biophys Acta       Date:  1980-08-07

7.  Diagnosis of fructose-1,6-bisphosphatase deficiency using leukocytes: normal leukocyte enzyme activity in three female patients.

Authors:  Y S Shin
Journal:  Clin Investig       Date:  1993-02

8.  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.

Authors:  M R el-Maghrabi; M Gidh-Jain; L R Austin; S J Pilkis
Journal:  J Biol Chem       Date:  1993-05-05       Impact factor: 5.157

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

Authors:  A Nakai; Y Shigematsu; Y Y Liu; Y Kikawa; M Sudo
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

10.  Fructose-1,6-diphosphatase deficiency: glycerol excretion during fasting test.

Authors:  P A Dremsek; M Sacher; W Stögmann; R Gitzelmann; C Bachmann
Journal:  Eur J Pediatr       Date:  1985-07       Impact factor: 3.183
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  8 in total

Review 1.  Disorders of gluconeogenesis.

Authors:  G van den Berghe
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

2.  Diagnosis of fructose-1,6-bisphosphatase deficiency using cultured lymphocyte fraction: a secure and noninvasive alternative to liver biopsy.

Authors:  Y Kikawa; Y S Shin; M Inuzuka; E Zammarchi; M Mayumi
Journal:  J Inherit Metab Dis       Date:  2002-02       Impact factor: 4.982

3.  Novel mutations in patients with fructose-1,6-bisphosphatase deficiency.

Authors:  B Herzog; U Wendel; A A Morris; K Eschrich
Journal:  J Inherit Metab Dis       Date:  1999-04       Impact factor: 4.982

4.  Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.

Authors:  Y Kikawa; M Inuzuka; B Y Jin; S Kaji; J Koga; Y Yamamoto; K Fujisawa; I Hata; A Nakai; Y Shigematsu; H Mizunuma; A Taketo; M Mayumi; M Sudo
Journal:  Am J Hum Genet       Date:  1997-10       Impact factor: 11.025

5.  Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients.

Authors:  Elise Lebigot; Anaïs Brassier; Mokhtar Zater; Dilek Imanci; François Feillet; Patrice Thérond; Pascale de Lonlay; Audrey Boutron
Journal:  J Inherit Metab Dis       Date:  2015-01-20       Impact factor: 4.982

6.  Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency.

Authors:  Muhammad Faiyaz-Ul-Haque; Mohammed Al-Owain; Fouad Al-Dayel; Zuhair Al-Hassnan; Hamad Al-Zaidan; Zuhair Rahbeeni; Moeen Al-Sayed; Ameera Balobaid; Ahmad Cluntun; Mohamed Toulimat; Hala Abalkhail; Iskra Peltekova; Syed H E Zaidi
Journal:  Eur J Pediatr       Date:  2009-03-04       Impact factor: 3.183

7.  Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency.

Authors:  Niu Li; Guoying Chang; Yufei Xu; Yu Ding; Guoqiang Li; Tingting Yu; Yanrong Qing; Juan Li; Yiping Shen; Jian Wang; Xiumin Wang
Journal:  Int J Mol Sci       Date:  2017-04-18       Impact factor: 5.923

8.  International practices in the dietary management of fructose 1-6 biphosphatase deficiency.

Authors:  A Pinto; M Alfadhel; R Akroyd; Y Atik Altınok; S M Bernabei; L Bernstein; G Bruni; G Caine; E Cameron; R Carruthers; B Cochrane; A Daly; F de Boer; S Delaunay; A Dianin; M Dixon; E Drogari; S Dubois; S Evans; J Gribben; G Gugelmo; C Heidenborg; I Hunjan; I L Kok; B Kumru; A Liguori; D Mayr; E Megdad; U Meyer; R B Oliveira; A Pal; A Pozzoli; R Pretese; J C Rocha; S Rosenbaum-Fabian; J Serrano-Nieto; E Sjoqvist; C Timmer; L White; T van den Hurk; M van Rijn; H Zweers; M Ziadlou; A MacDonald
Journal:  Orphanet J Rare Dis       Date:  2018-01-25       Impact factor: 4.123
  8 in total

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