Literature DB >> 3014834

Adenylosuccinase deficiency.

G Van den Berghe, J Jaeken.   

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Year:  1986        PMID： 3014834     DOI： 10.1007/978-1-4684-5104-7_4

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN： 0065-2598            Impact factor:   2.622


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  7 in total

Review 1.  Inborn errors of the purine nucleotide cycle: adenylosuccinase deficiency.

Authors:  G Van den Berghe; M F Vincent; J Jaeken
Journal:  J Inherit Metab Dis       Date:  1997-06       Impact factor: 4.982

2.  Residual adenylosuccinase activities in fibroblasts of adenylosuccinase-deficient children: parallel deficiency with adenylosuccinate and succinyl-AICAR in profoundly retarded patients and non-parallel deficiency in a mildly retarded girl.

Authors:  F Van den Bergh; M F Vincent; J Jaeken; G Van den Berghe
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

3.  Functional studies in fibroblasts of adenylosuccinase-deficient children.

Authors:  F Van den Bergh; M F Vincent; J Jaeken; G Van den Berghe
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

4.  Adenylosuccinase deficiency: a patient with impaired erythrocyte activity and anomalous response to intravenous fructose.

Authors:  C Salerno; C Crifò; O Giardini
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

5.  Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis.

Authors:  J Jaeken; S K Wadman; M Duran; F J van Sprang; F A Beemer; R A Holl; P M Theunissen; P de Cock; F van den Bergh; M F Vincent
Journal:  Eur J Pediatr       Date:  1988-11       Impact factor: 3.183

6.  Transcriptome and metabolome analysis of crGART, a novel cell model of de novo purine synthesis deficiency: Alterations in CD36 expression and activity.

Authors:  Randall C Mazzarino; Veronika Baresova; Marie Zikánová; Nathan Duval; Terry G Wilkinson; David Patterson; Guido N Vacano
Journal:  PLoS One       Date:  2021-07-20       Impact factor: 3.240

Review 7.  Adenylosuccinate lyase deficiency.

Authors:  Agnieszka Jurecka; Marie Zikanova; Stanislav Kmoch; Anna Tylki-Szymańska
Journal:  J Inherit Metab Dis       Date:  2014-08-12       Impact factor: 4.982
  7 in total

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