(Q42078208)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9445373%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

title

Analysis of abnormalities in purine metabolism leading to gout and to neurological dysfunctions in man (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9445373%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

author

Marta Cascante Serratosa

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9445373%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

author name string

R Curto

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9445373%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

E O Voit

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9445373%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

language of work or name

English

0 references

publication date

1 February 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9445373%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

number of pages

11

1 reference

inferred from page(s)

published in

Biochemical Journal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9445373%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

volume

329 ( Pt 3)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9445373%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

page(s)

477-487

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9445373%20AND%20SRC:MED&resulttype=core&format=json

Validation and steady-state analysis of a power-law model of purine metabolism in man.

8 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219067

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219067

Adenylosuccinate lyase deficiency: an update.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219067

Comparative characterization of the fermentation pathway of Saccharomyces cerevisiae using biochemical systems theory and metabolic control analysis: model definition and nomenclature

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219067

Biochemical strategy of cancer cells and the design of chemotherapy: G. H. A. Clowes Memorial Lecture

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219067

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219067

Hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular basis of the clinical syndromes

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219067

Biochemical Evidence of Dysfunction of Brain Neurotransmitters in the Lesch-Nyhan Syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219067

Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine Synthesis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219067

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Gout

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219067

Observations on the growth in vitro of myeloid progenitor cells and fibroblasts from hemizygotes and heterozygotes for "complete" and "partial" hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency, and their relevance to the pathogenesi

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219067

Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219067

Urine test for adenylosuccinase deficiency in autistic children

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219067

Use of implicit methods from general sensitivity theory to develop a systematic approach to metabolic control. II. Complex systems

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219067

Use of implicit methods from general sensitivity theory to develop a systematic approach to metabolic control. I. Unbranched pathways

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219067

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219067

Nucleotide requirement of dopamine sensitive adenylate cyclase in synaptosomal membranes from the striatum of rat brain

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219067

Identification of inosine and hypoxanthine as endogenous inhibitors of [3H] diazepam binding in the central nervous system

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219067

IMP dehydrogenase, an enzyme linked with proliferation and malignancy

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219067

MIST: a user-friendly metabolic simulator.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219067

Constraints among molecular and systemic properties: implications for physiological genetics.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219067

Lesch-Nyhan syndrome: a study of motor behavior and cerebrospinal fluid neurotransmitters.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219067

Kinetic, physical, and regulatory properties of amidophosphoribosyltransferase

17 August 2018

1 reference

12 December 2020

Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase associated with gout and uric acid lithiasis

1 reference

12 December 2020

Hypoxanthine-guanine phosphoribosyltransferase deficiency: altered kinetic properties of a specific mutant form of the enzyme

1 reference

12 December 2020

Lesch-Nyhan syndrome: low dopamine-beta-hydroxylase activity and diminished sympathetic response to stress and posture

1 reference

12 December 2020

Complete deficiency of adenine phosphoribosyltransferase. Report of a family

1 reference

12 December 2020

Dopamine receptor binding regulated by guanine nucleotides

1 reference

12 December 2020

Partial hypoxanthine-guanine phosphoribosyl transferase deficiency with full expression of the Lesch-Nyhan syndrome

1 reference

12 December 2020

Hypoxanthine-guanine phosphoribosyltransferase variants: correlation of clinical phenotype with enzyme activity

1 reference

12 December 2020

Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase with reduced affinity for PP-ribose-P in four related males with gout

1 reference

12 December 2020

Self-mutilation in Lesch-Nyhan disease is caused by dopaminergic denervation

1 reference

12 December 2020

Dopaminergic receptor supersensitivity in self-mutilatory behaviour of Lesch-Nyhan disease

1 reference

12 December 2020

Increased purine nucleotide degradation in the central nervous system (CNS) in PRPP synthetase superactivity

1 reference

12 December 2020

Guanine Ribonucleotide Metabolism and the Regulation of Myelopoiesis

1 reference

12 December 2020

Long-Term Evolution of Type 1 Adenine Phosphoribosyltransferase (APRT) Deficiency

1 reference

12 December 2020

Functional studies in fibroblasts of adenylosuccinase-deficient children

1 reference

12 December 2020

Clinical symptoms of patients with partial HPRT deficiency

1 reference

12 December 2020

Identifiers

DOI

10.1042/BJ3290477

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9445373%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9445373%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

1 reference