(Q28242858)

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The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism

scientific article (publication date: June 1997)

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title

The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism (English)

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W L Nyhan

1

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W. L. Nyhan

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1

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language of work or name

English

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publication date

June 1997

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1997

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published in

Journal of Inherited Metabolic Disease

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volume

20

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issue

2

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page(s)

171-8

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171-178

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cites work

5-Methylcytosine in eukaryotic DNA.

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https://pubmed.ncbi.nlm.nih.gov/9211189

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12 December 2020

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https://api.crossref.org/works/10.1023%2FA%3A1005348504512

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7 January 2021

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Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients

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reference URL

https://pubmed.ncbi.nlm.nih.gov/9211189

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12 December 2020

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https://api.crossref.org/works/10.1023%2FA%3A1005348504512

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7 January 2021

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Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase

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https://pubmed.ncbi.nlm.nih.gov/9211189

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12 December 2020

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7 January 2021

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[Lesch-Nyhan syndrome: a new variant with hypoxanthine-guanine phosphoriboxyl transferase activity higher than the classical disease and detection of the heterozygote trait in the erythrocytes of the carrier]

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https://pubmed.ncbi.nlm.nih.gov/9211189

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12 December 2020

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Utilization of Purines by an HPRT Variant in an Intelligent, Nonmutilative Patient with Features of the Lesch-Nyhan Syndrome

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https://pubmed.ncbi.nlm.nih.gov/9211189

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12 December 2020

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

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https://pubmed.ncbi.nlm.nih.gov/9211189

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12 December 2020

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Self-mutilative behavior as a feature of the de Lange syndrome

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https://pubmed.ncbi.nlm.nih.gov/9211189

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12 December 2020

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7 January 2021

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Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency

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12 December 2020

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

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https://pubmed.ncbi.nlm.nih.gov/9211189

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12 December 2020

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https://api.crossref.org/works/10.1023%2FA%3A1005348504512

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7 January 2021

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Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/9211189

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1023%2FA%3A1005348504512

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7 January 2021

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

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https://pubmed.ncbi.nlm.nih.gov/9211189

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12 December 2020

based on heuristic

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https://api.crossref.org/works/10.1023%2FA%3A1005348504512

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7 January 2021

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Effects of azathioprine in a disorder of uric acid metabolism and cerebral function

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reference URL

https://pubmed.ncbi.nlm.nih.gov/9211189

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12 December 2020

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7 January 2021

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The spectrum of HPRT deficiency: an update.

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7 January 2021

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Identifiers

DOI

10.1023/A:1005348504512

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1030452860

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PubMed publication ID

9211189

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(Q28242858)

The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism

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