(Q43916491)

28 November 2017

title

Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene (English)

1 reference

28 November 2017

Tarak Srivastava

1

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28 November 2017

J Patrick O'Neill

series ordinal

2

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28 November 2017

Majed Dasouki

series ordinal

3

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28 November 2017

Ari M Simckes

series ordinal

4

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28 November 2017

publication date

1 March 2002

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American Journal of Medical Genetics Part A

28 November 2017

published in

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28 November 2017

volume

108

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28 November 2017

issue

3

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28 November 2017

page(s)

219-222

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Gout, uric acid and purine metabolism in paediatric nephrology

28 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10217

Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10217

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10217

The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10217

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Gout

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10217

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10217

A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10217

Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10217

Partial Deficit of Hypoxanthine Guanine Phosphoribosyl Transferase Presenting as Acute Renal Failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10217

Renal failure in infancy due to over-production of urate

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10217

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10217

A new point mutation in a hypoxanthine phosphoribosyltransferase-deficient patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10217

Germinal HPRT splice donor site mutation results in multiple RNA splicing products in T-lymphocyte cultures

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10217

Failure to thrive, hyperuricemia, and renal insufficiency in early infancy secondary to partial hypoxanthine-guanine phosphoribosyl transferase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10217

Purine enzyme defects as a cause of acute renal failure in childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10217

21 January 2018

Identifiers

DOI

10.1002/AJMG.10217

1 reference

28 November 2017

1 reference