Literature DB >> 12898237

Fructose 1,6 diphosphatase deficiency in a Turkish infant.

Betül Tavil, Tansu Sipahi.   

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Year:  2003        PMID： 12898237     DOI： 10.1007/s00431-003-1234-7

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  7 in total

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

Authors:  A B Burlina; M Poletto; Y S Shin; F Zacchello
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  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

3.  Recurrent attacks of ketotic acidosis associated with fructose-1,6-diphosphatase deficiency.

Authors:  L Corbeel; E Eggermont; R Eeckels; J Jaeken; M Casteels-Van Daele; H Devlieger; B Delmontte
Journal:  Acta Paediatr Belg       Date:  1976 Jan-Mar

4.  Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity.

Authors:  L Baker; A I Winegrad
Journal:  Lancet       Date:  1970-07-04       Impact factor: 79.321

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

Authors:  O N Elpeleg; V Barash; H Hurvitz; D Branski
Journal:  Am J Dis Child       Date:  1989-02

6.  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.

Authors:  M Iga; M Kimura; T Ohura; Y Kikawa; S Yamaguchi
Journal:  J Chromatogr B Biomed Sci Appl       Date:  2000-09-01

7.  Fructose-1,6-diphosphatase deficiency in Israel.

Authors:  S W Moses; N Bashan; B F Flasterstein; A Rachmel; A Gutman
Journal:  Isr J Med Sci       Date:  1991-01
  7 in total
  3 in total

1.  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

2.  Fructose-1,6-diphosphatase deficiency: a treatable neurometabolic disorder.

Authors:  Mahesh Kamate; Milind Jambagi; Prashanth Gowda; Smita Sonoli
Journal:  BMJ Case Rep       Date:  2014-09-22

3.  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
  3 in total

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