(Q40469802)

20 September 2017

1 reference

title

Hypoxanthine-guanine phosphoribosyl transferase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A765262

26 July 2022

author name string

C. H. de Bruyn

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A765262

26 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=765262

26 July 2022

publication date

1 February 1976

1 reference

20 September 2017

29 February 1976

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=765262

26 July 2022

1 reference

20 September 2017

31

1 reference

20 September 2017

127-150

1 reference

20 September 2017

2

1 reference

https://scigraph.springernature.com/pub.10.1007/bf00296142

20 September 2017

0 references

cites work

Protein synthesis by membrane-bound and free ribosomes of the developing rat cerebral cortex

1 reference

https://api.crossref.org/works/10.1007%2FBF00296142

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Gout

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00296142

Halogenated Hydrocarbons in and over the Atlantic

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00296142

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00296142

The role of 8-azaguanine in the selection from human diploid cells of mutants deficient in hypoxanthine-guanine-phosphoribosyl-transferase (HGPRT)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00296142

Inherited disorder of purine metabolism. Correlation between central nervous system dysfunction and biochemical defects

21 January 2018

1 reference

12 December 2020

UPTAKE OF MAMMALIAN CHROMOSOMES BY MAMMALIAN CELLS

1 reference

12 December 2020

X-Linked Recessive Inheritance of a Syndrome of Mental Retardation With Hyperuricemia

1 reference

12 December 2020

Changes in the carbohydrate metabolism of mitogenicellay stimulated human peripheral lymphocytes I. Stimulation by phytohaemagglutinin

1 reference

12 December 2020

Interallelic Complementation in Hybrid Cells Derived from Human Diploid Strains Deficient in Galactose-1-Phosphate Uridyl Transferase Activity

1 reference

12 December 2020

Interallelic complementation in hydrid cells derived from Chinese hamster diploid clones deficient in hypoxanthine-guanine phosphoribosyl-transferase activity

1 reference

12 December 2020

Excessive production of uric acid in type I glycogen storage disease

1 reference

12 December 2020

Uptake of isolated metaphase chromosomes by mammalian cells in vitro

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

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

1 reference

12 December 2020

Appearance of hypoxanthine guanine phosphoribosyltransferase activity as a consequence of mycoplasma contamination

1 reference

12 December 2020

The development of hypoxanthine-guanine phosphoribosyltransferase activity in man

1 reference

12 December 2020

Evidence for transfer of enzyme product as the basis of metabolic cooperation between tissue culture fibroblasts of Lesch-Nyhan disease and normal cells

1 reference

12 December 2020

Heterogeneity in the biochemical characteristics of red blood cell hypoxanthine-guanine phosphoribosyl transferase from two unrelated patients with the lesch-nyhan syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

The significance of the deficiency state in Lesch-Nyhan disease

1 reference

12 December 2020

Development of micro HG-PRT activity assay: preliminary complementation studies with Lesch-Nyhan cell strains

1 reference

12 December 2020

Azaguanine resistant hamster cell lines not deficient in hypoxanthine-guanine phosphoribosyl transferase

1 reference

12 December 2020

Evidence for inhibition by brain serotonin of mouse killing behaviour in rats.

1 reference

12 December 2020

Human-mouse hybrid cell lines containing partial complements of human chromosomes and functioning human genes

1 reference

12 December 2020

Biochemical Bases of Accelerated Purine Biosynthesis de Novo in Human Fibroblasts Lacking Hypoxanthine-Guanine Phosphoribosyltransferase

1 reference

12 December 2020

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

1 reference

12 December 2020

Adaptation in Lesch-Nyhan cells exposed to aminopterin

1 reference

12 December 2020

Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme

1 reference

12 December 2020

Lesch-Nyhan syndrome: absence of the mutant enzyme in erythrocytes of a heterozygote for both normal and mutant hypoxanthine-guanine phosphoribosyl transferase.

1 reference

12 December 2020

Metaphase figures of rat chromosomes incorporated into mouse cells.

1 reference

12 December 2020

Inheritance of purine phosphoribosyltransferases in man

1 reference

12 December 2020

A new assay method for hypoxanthine-guanine phosphoribosyltransferase

1 reference

12 December 2020

Recombinational events between exogenous mouse DNA and newly synthesized DNA strands of chicken cells in culture

1 reference

12 December 2020

Lesch-Nyhan syndrome. Pathology and pathologic physiology. Summary

1 reference

12 December 2020

Transfer of Genetic Information by Purified Metaphase Chromosomes

1 reference

12 December 2020

Human X-Linked genes regionally mapped utilizing X-autosome translocations and somatic cell hybrids

1 reference

12 December 2020

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

1 reference

12 December 2020

Metabolic Coupling, Ionic Coupling and Cell Contacts

1 reference

12 December 2020

Urinary and cerebrospinal fluid oxypurine levels and allopurinol metabolism in the Lesch-Nyhan syndrome

1 reference

12 December 2020

Hypoxanthine-guanine-phosphoribosyl-transferase from rat brain (purification, kinetic properties, development and distribution)

1 reference

12 December 2020

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

1 reference

12 December 2020

DNA Uptake by a Mutant Strain of Lymphoma Cells

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

STUDIES ON THE ISOLATION OF METAPHASE CHROMOSOMES.

1 reference

12 December 2020

Clinical Features of Patients With the "Partial" Deficiency of the X-Linked Uricaciduria Enzyme

1 reference

12 December 2020

Reappearance of murine hypoxanthine guanine phosphoribosyl transferase activity in mouse A9 cells after attempted hybridisation with human cell lines

1 reference

12 December 2020

Adenine, hypoxanthine and guanine metabolism in fibroblasts from normal individuals and from patients with hypoxanthine phosphoribosyltransferase deficiency

1 reference

12 December 2020

SELECTION OF HYBRIDS FROM MATINGS OF FIBROBLASTS IN VITRO AND THEIR PRESUMED RECOMBINANTS.

1 reference

12 December 2020

Human hypoxanthine-guanine phosphoribosyltransferase. Purification and subunit structure

1 reference

12 December 2020

Hyperuricemia in mongolism

1 reference

12 December 2020

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

1 reference

12 December 2020

Lesch-Nyhan Mutation: Prenatal Detection with Amniotic Fluid Cells

1 reference

12 December 2020

Linkage analysis using somatic cell hybrids

1 reference

12 December 2020

Mitotic separation of two human X-linked genes in man--mouse somatic cell hybrids

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

Cells with Phosphoribosyl Transferase Activity recovered from Mouse Cells resistant to 8-Azaguanine

1 reference

12 December 2020

Single-allele expression at an X-linked hyperuricemia locus in heterozygous human cells

1 reference

12 December 2020

Stereotyped and aggressive behavior induced by sustained high dose of theophylline in rats

1 reference

12 December 2020

Inheritance of hypoxanthine-guanine phosphoribosyltransferase deficiency and detection of heterozygotes

1 reference

12 December 2020

Purification of IMP:pyrophosphate phosphoribosyltransferases, catalytically incompetent enzymes in Lesch-Nyhan disease

1 reference

12 December 2020

Restoration of Hypoxanthine Phosphoribosyl Transferase Activity in Mouse 1R Cells After Fusion with Chick-Embryo Fibroblasts

1 reference

12 December 2020

Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts

1 reference

12 December 2020

A study of metabolic cooperation utilizing human mutant fibroblasts

1 reference

12 December 2020

Hypoxanthine-guanine phosphoribosyltransferase deficiency and Xg blood group

1 reference

12 December 2020

Biochemical diagnosis of an X-linked disease in utero.

1 reference

12 December 2020

Metabolic Responses of Separated Leucocytes to Phytohaemagglutinin: Effects of Anaerobiasis, Actinomycin D and Puromycin

1 reference

12 December 2020

Uptake of DNA by Living Cells

1 reference

12 December 2020

X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations.

1 reference

12 December 2020

Reexpression of the rat hypoxanthine phosphoribosyltransferase gene in rat-human hybrids

1 reference

12 December 2020

Detection of females heterozygous for the Lesch-Nyhan mutation by 8-azaguanine-resistant growth of cultured fibroblasts

1 reference

12 December 2020

Cell population density and phenotypic expression of tissue culture fibroblasts from heterozygotes of Lesch-Nyhan's disease (inosinate pyrophosphorylase deficiency)

1 reference

12 December 2020

Studies on metabolic cooperation using different types of normal and hypoxanthine-guanine phosphoribosyltransferase (HG-PRT) deficient cells

1 reference

12 December 2020

Purine phosphoribosyl transferases in human hair roots

1 reference

12 December 2020

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

1 reference

12 December 2020

THREE DEGREES OF GUANYLIC ACID--INOSINIC ACID PYROPHOSPHORYLASE DEFICIENCY IN MOUSE FIBROBLASTS.

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

Changes in purine phosphoribosyltransferase activities in mouse brain, liver and muscle with age.

1 reference

12 December 2020

Incorporation of isolated chromosomes and induction of hypoxanthine phosphoribosyltransferase in chinese hamster cells

1 reference

12 December 2020

Detection of heterozygous carriers of the Lesch-Nyhan syndrome by electrophoresis of hair root lysates

1 reference

12 December 2020

The Lesch-Nyhan syndrome

1 reference

12 December 2020

X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: Detection of heterozygotes by selective medium

1 reference

12 December 2020

Assignment of three gene loci (PGK, HGPRT, G6PD) to the long arm of the human X chromosome by somatic cell genetics

1 reference

12 December 2020

Characterization of hypoxanthine-guanine phosphoribosyl transferase in man--mouse somatic cell hybrids by an improved electrophoretic method

1 reference

12 December 2020

Absence of mosaicism in the lymphocyte in X-linked congenital hyperuricosuria

1 reference

12 December 2020

X-linkage of human phosphoglycerate kinase confirmed in man-mouse and man-Chinese hamster somatic cell hybrids

1 reference

12 December 2020

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

1 reference

12 December 2020

Lesch-Nyhan syndrome. Summary of clinical features

1 reference

12 December 2020

Methods for the study of purine metabolism in human cells in vitro

1 reference

12 December 2020

Encephalopathy with self mutilations in a twin. Normal HGPRT activity. Hyperuricosuria without major hyperuricemia. Apropos of the limits of the Lesch-Nyham syndrome

1 reference

12 December 2020

Vulnerability of Developing Brain. IX. The Effect of Nutritional Growth Retardation on the Timing of the Brain Growth-Spurt

1 reference

12 December 2020

Lesch-Nyhan syndrome: Incorporation of hypoxanthine in stimulated lymphocytes

1 reference

12 December 2020

The effect of exogenous DNA upon cleaving mouse embryos

1 reference

12 December 2020

Mosaicism of peripheral blood lymphocyte populations in females heterozygous for the Lesch-Nyhan mutation.

1 reference

12 December 2020

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

1 reference

12 December 2020

Communication between normal and enzyme deficient cells in tissue culture

1 reference

12 December 2020

Purine metabolism in heterozygous carriers of hypoxanthine-guanine phosphoribosyltransferase deficiency

1 reference

12 December 2020

Gene action in the X-chromosome of the mouse (Mus musculus L.)

1 reference

12 December 2020

Lesch-Nyhan Syndrome: Evidence for Abnormal Adrenergic Function

1 reference

12 December 2020

Substrate stabilization: genetically controlled reciprocal relationship of two human enzymes

1 reference

12 December 2020

Letter: Self mutilation in Lesch-Nyhan syndrome

1 reference

12 December 2020

Regulation of pigment synthesis in mammalian cells, as studied by somatic hybridization

1 reference

12 December 2020

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

1 reference

12 December 2020

Lesch-Nyhan syndrome. Heterozygote detection by biochemical selection of the mutant cells and autoradiography

1 reference

12 December 2020

Lesch-Nyhan Syndrome: Rapid Detection of Heterozygotes by Use of Hair Follicles

1 reference

12 December 2020

Glucose-6 phosphate dehydrogenase mosaicism: utilization as a tracer in the study of the development of hair root cells

1 reference

12 December 2020

Clinical and Therapeutic Aspects of the Lesch-Nyhan Syndrome in Japanese Children

1 reference

12 December 2020

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

1 reference

12 December 2020

Purine metabolism in intact erythrocytes from controls and HG-PRT deficient individuals

1 reference

12 December 2020

Disorder of purine metabolism due to partial deficiency of hypoxanthine-guanine phosphoribosyltransferase

1 reference

12 December 2020

Metabolism of purines in cultured normal and HPRT-deficient human fibroblasts

1 reference

12 December 2020

Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome

1 reference

12 December 2020

Hypoxanthine-guanine phosphoribosyltransferase deficiency in the Lesch-Nyhan syndrome and gout

1 reference

12 December 2020

Suppression of Malignancy by Cell Fusion

1 reference

12 December 2020

Biochemical Characteristics of 8-Azaguanine Resistant Human Lymphoblast Mutants Selected in Vitro

1 reference

12 December 2020

SYNTHESIS OF 5-PHOSPHORIBOSYL 1-PYROPHOSPHATE FROM GLUCOSE IN EHRLICH ASCITES TUMOR CELLS IN VITRO.

1 reference

12 December 2020

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

1 reference

12 December 2020

Myelination as a vulnerable period in brain development

1 reference

12 December 2020

Reversion in expression of hypoxanthine-guanine phosphoribosyl transferase following cell hybridization

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00296142

1 reference

Dimensions Publication ID

20 September 2017

0 references

1 reference