(Q34510044)

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

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Europe PubMed Central

PubMed publication ID

2 August 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

white blood cell

1 reference

based on heuristic

inferred from title

author name string

Dancis J

1

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Yip LC

2

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Cox RP

3

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Piomelli S

4

1 reference

Europe PubMed Central

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2 August 2017

Balis ME

5

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

language of work or name

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publication date

1 August 1973

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Europe PubMed Central

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2 August 2017

Journal of Clinical Investigation

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Europe PubMed Central

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2 August 2017

52

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Europe PubMed Central

PubMed publication ID

2 August 2017

8

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

2068-2074

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Sex-linked electrophoretic difference in glucose-6-phosphate dehydrogenase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=302489

7 July 2018

Familial hyperlysinemia with lysine-ketoglutarate reductase insufficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=302489

7 July 2018

In vivo lability of glucose-6-phosphate dehydrogenase in GdA- and GdMediterranean deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=302489

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=302489

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=302489

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=302489

7 July 2018

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Gout

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=302489

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=302489

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=302489

7 July 2018

Determination of uric acid. An adaptation of the Archibald method on the autoanalyzer

1 reference

https://pubmed.ncbi.nlm.nih.gov/4352580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SOME STUDIES OF ENZYMES IN CULTIVATED HUMAN CELLS

1 reference

https://pubmed.ncbi.nlm.nih.gov/4352580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnostic test for congenital hyperuricemia with central nervous system dysfunction

1 reference

https://pubmed.ncbi.nlm.nih.gov/4352580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Kinetic Studies of Hypoxanthine-Guanine Phosphoribosyltransferase

1 reference

https://pubmed.ncbi.nlm.nih.gov/4352580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/4352580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Elevated AMP pyrophosphorylase activity in congenital IMP pyrophosphorylase deficiencey (Lesch-Nyhan disease)

1 reference

https://pubmed.ncbi.nlm.nih.gov/4352580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enzymopathic gout. Dyspurinia due to hypoxanthine-guanine-phosphoribosyl-transferase deficiency. Occurrence and clinical characteristics of enzyme repression

1 reference

https://pubmed.ncbi.nlm.nih.gov/4352580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/4352580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

IMP: and AMP:pyrophosphate phosphoribosyltransferase in leukemic and normal human leukocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/4352580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/4352580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isoenzymes of hypoxanthine-guanine-phosphoribosyl transferase in a family with partial deficiency of the enzyme

1 reference

https://pubmed.ncbi.nlm.nih.gov/4352580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The average volume of leukemic leukocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/4352580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Urinary Metabolites in Congenital Hyperuricosuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/4352580

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI107391

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

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