Literature DB >> 9266351

Adenylosuccinase deficiency: clinical and biochemical findings in 5 Czech patients.

I Sebesta1, J Krijt, S Kmoch, H Hartmannová, M Wojda, J Zeman.   

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Year:  1997        PMID： 9266351     DOI： 10.1023/a:1005361408031

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


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  4 in total

1.  An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids.

Authors:  J Jaeken; G Van den Berghe
Journal:  Lancet       Date:  1984-11-10       Impact factor: 79.321

2.  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

3.  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

4.  Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines.

Authors:  P K de Bree; S K Wadman; M Duran; H Fabery de Jonge
Journal:  Clin Chim Acta       Date:  1986-05-15       Impact factor: 3.786
  4 in total
  5 in total

Review 1.  When to investigate for purine and pyrimidine disorders. Introduction and review of clinical and laboratory indications.

Authors:  H A Simmonds; J A Duley; L D Fairbanks; M B McBride
Journal:  J Inherit Metab Dis       Date:  1997-06       Impact factor: 4.982

Review 2.  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

3.  Misleading behavioural phenotype with adenylosuccinate lyase deficiency.

Authors:  Cyril Gitiaux; Irène Ceballos-Picot; Sandrine Marie; Vassili Valayannopoulos; Marlène Rio; Séverine Verrieres; Jean François Benoist; Marie Françoise Vincent; Isabelle Desguerre; Nadia Bahi-Buisson
Journal:  Eur J Hum Genet       Date:  2008-10-01       Impact factor: 4.246

Review 4.  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

5.  A test for ancient selective sweeps and an application to candidate sites in modern humans.

Authors:  Fernando Racimo; Martin Kuhlwilm; Montgomery Slatkin
Journal:  Mol Biol Evol       Date:  2014-08-28       Impact factor: 16.240
  5 in total

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