(Q41521412)

2 October 2017

1 reference

title

Inborn errors of the purine nucleotide cycle: adenylosuccinase deficiency (English)

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2 October 2017

Van den Berghe G

1

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2 October 2017

Vincent MF

series ordinal

2

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2 October 2017

Jaeken J

series ordinal

3

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2 October 2017

publication date

1 June 1997

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Journal of Inherited Metabolic Disease

2 October 2017

published in

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2 October 2017

volume

20

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2 October 2017

issue

2

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2 October 2017

page(s)

193-202

1 reference

https://scigraph.springernature.com/pub.10.1023/a:1005304722259

2 October 2017

exact match

0 references

cites work

Purine biosynthesis in Chinese hamster cell mutants and human fibroblasts partially deficient in adenylosuccinate lyase

1 reference

12 December 2020

Kinetic studies of mutant human adenylosuccinase

1 reference

12 December 2020

Adenylosuccinase deficiency.

1 reference

12 December 2020

Adenylosuccinase deficiency: a newly recognized variant

1 reference

12 December 2020

Capillary electrophoresis for screening of adenylosuccinate lyase deficiency.

1 reference

12 December 2020

Influence of succinylpurines on the binding of adenosine to a particulate fraction of rat cerebral cortex

1 reference

12 December 2020

Urine test for adenylosuccinase deficiency in autistic children

1 reference

12 December 2020

Adenylosuccinate lyase deficiency in a Czech girl and two siblings

1 reference

12 December 2020

A mutation in adenylosuccinate lyase associated with mental retardation and autistic features

1 reference

12 December 2020

Inhibition by AICA Riboside of Gluconeogenesis in Isolated Rat Hepatocytes

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Functional studies in fibroblasts of adenylosuccinase-deficient children

1 reference

12 December 2020

Cloning of a cDNA encoding adenylosuccinate lyase by functional complementation in Escherichia coli

1 reference

12 December 2020

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

1 reference

12 December 2020

5-Amino-4-imidazolecarboxamide riboside (Z-riboside) metabolism in eukaryotic cells

1 reference

12 December 2020

Regional brain glucose utilization in adenylosuccinase-deficient patients measured by positron emission tomography

1 reference

12 December 2020

Expression, purification, and kinetic characterization of recombinant human adenylosuccinate lyase

1 reference

12 December 2020

Adenylosuccinase deficiency: clinical and biochemical findings in 5 Czech patients

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The physiological role of adenosine in the central nervous system

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12 December 2020

Z-nucleotide accumulation in erythrocytes from Lesch-Nyhan patients

1 reference

12 December 2020

The purine nucleotide cycle and its molecular defects

1 reference

12 December 2020

Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis.

1 reference

12 December 2020

Ammonia production in muscle and other tissues: the purine nucleotide cycle

1 reference

12 December 2020

A new diagnostic technique for adenylosuccinate lyase deficiency

1 reference

12 December 2020

A somatic cell hybrid with a single human chromosome 22 corrects the defect in the CHO mutant (Ade-I) lacking adenylosuccinase activity.

1 reference

12 December 2020

URINE TEST FOR ADENYLOSUCCINASE DEFICIENCY IN AUTISTIC CHILDREN

1 reference

Crossref

https://api.crossref.org/works/10.1023%2FA%3A1005304722259

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1023/A:1005304722259

1 reference

Dimensions Publication ID

2 October 2017

1026624049

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1 reference