(Q44866945)

7 December 2017

Two populations of heterozygote erythrocytes in moderate hypoxanthine guanine phosphoribosyltransferase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A995201

13 August 2022

author name string

L. A. Johnson

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A995201

13 August 2022

R. B. Gordon

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A995201

13 August 2022

B. T. Emmerson

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A995201

13 August 2022

language of work or name

English

0 references

publication date

1 November 1976

1 reference

7 December 2017

11 November 1976

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=995201

13 August 2022

1 reference

7 December 2017

264

1 reference

7 December 2017

172-174

1 reference

7 December 2017

5582

1 reference

https://scigraph.springernature.com/pub.10.1038/264172a0

7 December 2017

0 references

cites work

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

7 January 2021

Identifiers

DOI

10.1038/264172A0

1 reference

Dimensions Publication ID

7 December 2017

0 references

1 reference