Clinical and biochemical studies on treatment of Lesch-Nyhan syndrome (Q35151583)

6 August 2017

title

Clinical and biochemical studies on treatment of Lesch-Nyhan syndrome (English)

1 reference

6 August 2017

0 references

R. W. Watts

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4472817

22 January 2023

R. O. McKeran

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4472817

22 January 2023

E. Brown

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4472817

22 January 2023

T. M. Andrews

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4472817

22 January 2023

M. I. Griffiths

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4472817

22 January 2023

language of work or name

English

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publication date

1 September 1974

1 reference

full work available at URL

6 August 2017

https://europepmc.org/articles/PMC1649025

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4472817

https://europepmc.org/articles/PMC1649025?pdf=render

22 January 2023

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4472817

https://syndication.highwire.org/content/doi/10.1136/adc.49.9.693

22 January 2023

1 reference

https://api.crossref.org/works/10.1136/ADC.49.9.693

Archives of Disease in Childhood

22 January 2023

published in

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6 August 2017

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6 August 2017

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6 August 2017

page(s)

693-702

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Protein measurement with the Folin phenol reagent

6 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1649025

A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1649025

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1649025

Synthesis de novo of purines in slices of rat brain and liver

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1649025

Purine requirement of cells cultured from humans affected with Lesch-Nyhan syndrome (hypoxanthine-guanine phosphoribosyltransferase deficiency).

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1649025

The development of hypoxanthine-guanine phosphoribosyltransferase activity in man

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1649025

A Possible Role of Purine Nucleotide Pyrophosphorylases in the Regulation of Purine Uptake by Bacillus subtilis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1649025

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Gout

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1649025

The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1649025

Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1649025

Human glutamine phosphoribosylpyrophosphate amidotransferase. Kinetic and regulatory properties

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1649025

Activation of variants of hypoxanthine-guanine phosphoribosyl transferase by the normal enzyme

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1649025

The biological significance of purine salvage

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1649025

Lesch-Nyhan syndrome. Management and treatment

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1649025

Megaloblastic anaemia in the Lesch-Nyhan syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1649025

The enzymatic spectrophotometric method for determination of uric acid

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1649025

THE ENZYMOLOGY OF FEEDBACK INHIBITION OF GLUTAMINE PHOSPHORIBOSYLPYROPHOSPHATE AMIDOTRANSFERASE BY PURINE RIBONUCLEOTIDES.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1649025

Urine uric acid to creatinine rtio--a screening test for inherited disorders of purine metabolism. Phosphoribosyltransferase (PRT) deficiency in X-linked cerebral palsy and in a variant of gout

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1649025

The significance of the deficiency state in Lesch-Nyhan disease

27 September 2018

1 reference

12 December 2020

The influence of adenine on the clinical features and purine metabolism in the Lesch-Nyhan syndrome

1 reference

12 December 2020

Concentration of purine nucleotides in erythrocytes of patients with the Lesch-Nyhan syndrome before and during oral administration of adenine

1 reference

12 December 2020

Purine base incorporation into erythrocyte nucleotides in hypoxanthine-guanine phosphoribosyltransferase deficiency

1 reference

12 December 2020

Clinical features of the Lesch-Nyhan syndrome

1 reference

12 December 2020

The Lesch-Nyhan syndrome. Metabolic studies during administration of adenine

1 reference

12 December 2020

Dependence of Bone Marrow Cells on the Liver for Purine Supply

1 reference

12 December 2020

[On familial gouty diathesis associated with cerebral and renal symptoms in a small child.]

1 reference

12 December 2020

https://api.crossref.org/works/10.1136/ADC.49.9.693

The Lesch-Nyhan syndrome

1 reference

Gout and Cerebral Palsy in a Three-year-old Boy

22 January 2023

1 reference

https://api.crossref.org/works/10.1136/ADC.49.9.693

22 January 2023

Identifiers

DOI

10.1136/ADC.49.9.693

1 reference

6 August 2017

1 reference

6 August 2017

1 reference