(Q70872993)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7262868%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

title

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

1 reference

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14 October 2019

1 reference

4 April 2024

author name string

G. Rijksen

1

1 reference

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4 April 2024

G. E. Staal

2

1 reference

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4 April 2024

M. J. van der Vlist

3

1 reference

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4 April 2024

F. a Beemer

4

1 reference

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4 April 2024

J. Troost

5

1 reference

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4 April 2024

W. Gutensohn

6

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4 April 2024

J. P. van Laarhoven

7

1 reference

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4 April 2024

C. H. de Bruyn

8

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4 April 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=7262868

4 April 2024

publication date

1 January 1981

1 reference

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full work available at URL

14 October 2019

http://link.springer.com/content/pdf/10.1007/BF00271165.pdf

file format

Portable Document Format

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http://link.springer.com/article/10.1007/BF00271165/fulltext.html

4 April 2024

1 reference

http://link.springer.com/content/pdf/10.1007/BF00271165

4 April 2024

1 reference

4 April 2024

1 reference

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14 October 2019

volume

57

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14 October 2019

page(s)

39-47

1 reference

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14 October 2019

issue

1

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https://scigraph.springernature.com/pub.10.1007/bf00271165

14 October 2019

exact match

0 references

cites work

A simple and sensitive method for estimating the concentration and synthesis of 5-phosphoribosyl 1-pyrophosphate in red blood cells

1 reference

12 December 2020

Mechanism of allopurinol-mediated inhibition and stabilization of human orotate phosphoribosyltransferase and orotidine phosphate decarboxylase

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

The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency.

1 reference

12 December 2020

Analysis of Serum Purines and Pyrimidines by Isotachophoresis

1 reference

12 December 2020

Disparate enzyme activity in erythocytes and leukocytes. A variant of hypoxanthine phosphoribosyl-transferase deficiency with an unstable enzyme

1 reference

12 December 2020

Fluctuating adenosine deaminase activities in cultured fibroblasts

1 reference

12 December 2020

Incorporation of Purine Bases by Intact Red Blood Cells

1 reference

12 December 2020

Allopurinol: Alteration in Pyrimidine Metabolism in Man

1 reference

12 December 2020

Human hypoxanthine phosphoribosyltransferase. II. Kinetics and chemical modification.

1 reference

12 December 2020

Properties of hypoxanthineguanine-phosphoribosyltransferase (HGPRTase) in a gout patient with partial deficiency of this enzyme (author's transl)

1 reference

12 December 2020

Hypoxanthine-guanine phosphoribosyltransferase deficiency: activity in normal, mutant, and heterozygote-cultured human skin fibroblasts

1 reference

12 December 2020

Electrophoretic properties of hypoxanthine-guanine phosphoribosyl transferase in erythrocytes of subjects with Lesch-Nyhan syndrome

1 reference

12 December 2020

Hypoxanthine phosphoribosyltransferase deficiency: association of reduced catalytic activity with reduced levels of immunologically detectable enzyme protein

1 reference

12 December 2020

Studies on hair roots for carrier detection in hypoxanthine-quanine phosphoribosyl transferase deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

Purine Phosphoribosyl Transferases in Human Erythrocyte Ghosts

1 reference

12 December 2020

Hypoxanthine-guanine phosphoribosyl transferase deficiency

1 reference

12 December 2020

Studies on hypoxanthine-guanine phosphoribosyltransferase in fibroblasts from patients with the Lesch-Nyhan syndrome. Evidence for genetic heterogeneity

1 reference

12 December 2020

Immunological observations on patients with Lesch-Nyhan syndrome, and on the role of de-novo purine synthesis in lymphocyte transformation

1 reference

12 December 2020

Molecular and tissue-specific heterogeneity in HPRT deficiency

1 reference

12 December 2020

Inherited deficiency of hypoxanthine-guanine phosphoribosyltransferase in X-linked uric aciduria (the Lesch-Nyhan syndrome and its variants)

1 reference

12 December 2020

An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome). I. Clinical studies

1 reference

12 December 2020

Protein measurement with the Folin phenol reagent

1 reference

12 December 2020

The removal of leukocytes and platelets from whole blood.

1 reference

12 December 2020

A new ultramicrochemical assay for purine nucleoside phosphorylase

1 reference

12 December 2020

Partial deficiency of hypoxanthine-phosphoribosyltransferase:evidence for a structural mutation in a patient with gout

1 reference

12 December 2020

Hyperuricosuric encephalopathies with self-mutilations

1 reference

12 December 2020

Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase: intermediate enzyme deficiency in heterozygote red cells

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00271165

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7262868%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

1 reference