Literature DB >> 2122081

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

A B Burlina1, M Poletto, Y S Shin, F Zacchello.   

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Year:  1990        PMID： 2122081     DOI： 10.1007/bf01799368

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


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  4 in total

1.  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

2.  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

3.  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

4.  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
  4 in total
  8 in total

1.  Fructose 1,6 diphosphatase deficiency in a Turkish infant.

Authors:  Betül Tavil; Tansu Sipahi
Journal:  Eur J Pediatr       Date:  2003-07-25       Impact factor: 3.183

2.  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

3.  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

4.  Investigation of enzyme defects in children with lactic acidosis.

Authors:  B Merinero; C Pérez-Cerda; M Ugarte
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

5.  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

6.  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

Review 7.  Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach.

Authors:  Swati Chaturvedi; Ashok K Singh; Amit K Keshari; Siddhartha Maity; Srimanta Sarkar; Sudipta Saha
Journal:  Scientifica (Cairo)       Date:  2016-03-09

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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