Literature DB >> 1405483

Adenylosuccinase deficiency: a newly recognized variant.

J Jaeken1, F Van den Bergh, M F Vincent, P Casaer, G Van den Berghe.   

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Year:  1992        PMID： 1405483     DOI： 10.1007/bf02435992

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


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  6 in total

1.  Screening for inborn errors of purine synthesis.

Authors:  J Jaeken; G van den Berghe
Journal:  Lancet       Date:  1989-03-04       Impact factor: 79.321

2.  Detection of 5'-phosphoribosyl-4-(N-succinylcarboxamide)-5-aminoimidazole in urine by use of the Bratton-Marshall reaction: identification of patients deficient in adenylosuccinate lyase activity.

Authors:  P K Laikind; J E Seegmiller; H E Gruber
Journal:  Anal Biochem       Date:  1986-07       Impact factor: 3.365

3.  Radiochemical assay of adenylosuccinase: demonstration of parallel loss of activity toward both adenylosuccinate and succinylaminoimidazole carboxamide ribotide in liver of patients with the enzyme defect.

Authors:  F Van den Bergh; M F Vincent; J Jaeken; G Van den Berghe
Journal:  Anal Biochem       Date:  1991-03-02       Impact factor: 3.365

4.  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

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.  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
  6 in total
  4 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

Review 2.  Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature.

Authors:  Agnieszka Jurecka; Elzbieta Jurkiewicz; Anna Tylki-Szymanska
Journal:  Eur J Pediatr       Date:  2011-05-31       Impact factor: 3.183

3.  Cerebrospinal fluid as a tool in the diagnosis of neurometabolic diseases: amino acid analysis before and after acid hydrolysis.

Authors:  J Jaeken
Journal:  Eur J Pediatr       Date:  1994       Impact factor: 3.183

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
  4 in total

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