Literature DB >> 11286391

Mutation spectrum in patients with fructose-1,6-bisphosphatase deficiency.

B Herzog1, A A Morris, C Saunders, K Eschrich.   

Abstract

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Year:  2001        PMID： 11286391     DOI： 10.1023/a:1005691730058

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


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  2 in total

1.  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

2.  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
  2 in total
  8 in total

1.  Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency.

Authors:  Bushra Afroze; Zabedah Yunus; Beat Steinmann; René Santer
Journal:  Eur J Pediatr       Date:  2013-07-24       Impact factor: 3.183

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.  Exon 2 deletion represents a common mutation in Turkish patients with fructose-1,6-bisphosphatase deficiency.

Authors:  Mustafa Kılıç; Çiğdem Seher Kasapkara; Didem Yücel Yılmaz; Rıza Köksal Özgül
Journal:  Metab Brain Dis       Date:  2019-07-05       Impact factor: 3.584

4.  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

5.  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

6.  A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis.

Authors:  René Santer; Marcel du Moulin; Tatevik Shahinyan; Inga Vater; Esther Maier; Ania C Muntau; Beat Steinmann
Journal:  Orphanet J Rare Dis       Date:  2016-04-21       Impact factor: 4.123

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.  Novel fructose bisphosphatase 1 gene mutation presenting as recurrent episodes of vomiting in an Indian child.

Authors:  A G Sharma; S K Kanwal; V Chhapola; V Kumar
Journal:  J Postgrad Med       Date:  2018 Jul-Sep       Impact factor: 1.476
  8 in total

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