An X-linked syndrome characterised by hyperuricaemia, deafness, and neurodevelopmental abnormalities (Q50595985)

16 March 2018

title

An X-linked syndrome characterised by hyperuricaemia, deafness, and neurodevelopmental abnormalities (English)

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16 March 2018

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H A Simmonds

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16 March 2018

Dianne Webster

series ordinal

object named as

D R Webster

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16 March 2018

author name string

J Wilson

series ordinal

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16 March 2018

S Lingham

series ordinal

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16 March 2018

language of work or name

English

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publication date

1 July 1982

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16 March 2018

published in

The Lancet

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16 March 2018

volume

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16 March 2018

issue

8289

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16 March 2018

page(s)

68-70

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16 March 2018

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

cites work

1 reference

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Hypoxanthine-guanine phosphoribosyltransferase variants: correlation of clinical phenotype with enzyme activity

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

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Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions

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Accelerated erythrocyte 5-phosphoribosyl-1-pyrophosphate synthesis. A familial abnormality associated with excessive uric acid production and gout

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7 January 2021

Gout with purine overproduction due to increased phosphoribosylpyrophosphate synthetase activity

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7 January 2021

Patterns of phosphoribosylpyrophosphate and ribose-5-phosphate concentration and generation in fibroblasts from patients with gout and purine overproduction

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7 January 2021

Pyrimidine and purine metabolites in ornithine carbamoyl transferase deficiency

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7 January 2021

Two dimensional thin-layer high-voltage electrophoresis and chromatography for the separation of urinary purines, pyrimidines and pyrazolopyrimidines

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2882%2991690-7

7 January 2021

GTP depletion and other erythrocyte abnormalities in inherited PNP deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2882%2991690-7

7 January 2021

Regional Localization of the Gene for Human Phosphoribosylpyrophosphate Synthetase on the X Chromosome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2882%2991690-7

7 January 2021

Hyperuricemia and neurologic deficits. A family study

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2882%2991690-7

7 January 2021

10.1016/S0140-6736(82)91690-7

Identifiers

DOI

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16 March 2018

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16 March 2018