Molecular and tissue-specific heterogeneity in HPRT deficiency (Q67018377)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:571718 AND SRC:MED&resulttype=core&format=json

2 September 2019

title

Molecular and tissue-specific heterogeneity in HPRT deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:571718 AND SRC:MED&resulttype=core&format=json

2 September 2019

1 reference

1 reference

19 July 2023

1 reference

19 July 2023

author name string

M. P. Uitendaal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:571718

12 July 2022

C. H. de Bruyn

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:571718

12 July 2022

T. L. Oei

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:571718

12 July 2022

P. Hösli

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:571718

12 July 2022

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=571718

12 July 2022

publication date

1 December 1978

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:571718 AND SRC:MED&resulttype=core&format=json

full work available at URL

2 September 2019

http://link.springer.com/content/pdf/10.1007/BF00484539.pdf

1 reference

http://link.springer.com/article/10.1007/BF00484539/fulltext.html

19 July 2023

1 reference

http://link.springer.com/content/pdf/10.1007/BF00484539

19 July 2023

1 reference

19 July 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:571718 AND SRC:MED&resulttype=core&format=json

2 September 2019

volume

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:571718 AND SRC:MED&resulttype=core&format=json

2 September 2019

issue

11-12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:571718 AND SRC:MED&resulttype=core&format=json

2 September 2019

page(s)

1187-1202

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:571718 AND SRC:MED&resulttype=core&format=json

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

2 September 2019

cites work

1 reference

12 December 2020

Evidence for molecular alteration of erythrocyte hypoxanthine-guanine phosphoribosyltransferase in a gouty family with partial deficiency of the enzyme

1 reference

12 December 2020

Synthesis of an enzyme determined by an erythrocyte nucleus in a hybrid cell

1 reference

12 December 2020

A specific enzyme defect in gout associated with overproduction of uric acid

1 reference

12 December 2020

Incorporation of Purine Bases by Intact Red Blood Cells

1 reference

12 December 2020

Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme

1 reference

12 December 2020

Kinetic Studies of Hypoxanthine-Guanine Phosphoribosyltransferase

1 reference

12 December 2020

A new assay method for hypoxanthine-guanine phosphoribosyltransferase

1 reference

12 December 2020

Hypoxanthine phosphoribosyltransferase activity in intact fibroblasts from patients with X-linked hyperuricemia

1 reference

12 December 2020

Azaguanine-resistance as a manifestation of a new form of metabolic overproduction of uric acid

1 reference

12 December 2020

Partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a 'Celebesian' family. A case of crippling gout associated with haematological disorders

1 reference

12 December 2020

Rarity of X-Linked Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in a Large Gouty Population

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

Quantitative assays of enzyme activity in single cells: early prenatal diagnosis of genetic disorders

1 reference

12 December 2020

Adenine formation from adenosine by mycoplasmas: adenosine phosphorylase activity

1 reference

12 December 2020

Quantitative radiochemical enzyme assays in single cells: Purine phosphoribosyl transferase activities in cultured fibroblasts

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

Human 5′-Nucleotidase: Multiple Molecular Forms and Regulation

1 reference

12 December 2020

Stabilization by PRPP of Cellular Purine Phosphoribosyltransferases Against Inactivation by Freezing and Thawing. Study of Normal and Hypoxanthine-Guanine Phosphoribosyltransferase Deficient Human Fibroblasts

1 reference

12 December 2020

Hypoxanthine-guanine phosphoribosyl transferase deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

Characterisation of Purine Nucleoside Phosphorylase from Fibroblasts Using Ultra-Microchemical Methods

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

Inhibition of 5′-nucleotidase from Ehrlich ascites-tumour cells by nucleoside triphosphates

1 reference

12 December 2020

Ultramicrochemistry: A Contribution to the Analysis of Purine Metabolism in Man

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

An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome)

1 reference

12 December 2020

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

1 reference

12 December 2020

Metabolic cooperation studied by a quantitative enzyme assay of single cells

1 reference

12 December 2020

Alterations of Human Purine Metabolism in Megaloblastic Anemia

12

1 reference

Advances in human genetics

19 July 2023

29

6

75

J. E. Seegmiller

1976

1 reference