(Q38942068)

7 September 2017

Hypoxanthine guanine phosphoribosyl transferase deficiency presenting with gout and renal failure in infancy (English)

1 reference

7 September 2017

1 reference

Holland PC

1

1 reference

7 September 2017

Dillon MJ

2

1 reference

7 September 2017

Pincott J

3

1 reference

7 September 2017

Simmonds HA

4

1 reference

7 September 2017

Barratt TM

5

1 reference

7 September 2017

language of work or name

English

0 references

publication date

1 October 1983

1 reference

Archives of Disease in Childhood

7 September 2017

1 reference

7 September 2017

58

1 reference

7 September 2017

10

1 reference

7 September 2017

831-833

1 reference

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

7 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628265

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628265

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628265

Hypoxanthine-guanine phosphoribosyl transferase deficiency

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628265

The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628265

17 June 2018

Identifiers

DOI

10.1136/ADC.58.10.831

1 reference

7 September 2017

1 reference

7 September 2017

1 reference