(Q34778923)

4 August 2017

title

Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways (English)

1 reference

4 August 2017

0 references

Rong Fu

1

1 reference

4 August 2017

Diane Sutcliffe

2

1 reference

4 August 2017

Hong Zhao

3

1 reference

4 August 2017

Xinyi Huang

4

1 reference

4 August 2017

David J Schretlen

5

1 reference

4 August 2017

Steve Benkovic

6

1 reference

4 August 2017

H A Jinnah

7

1 reference

4 August 2017

publication date

8 November 2014

1 reference

Molecular Genetics and Metabolism

4 August 2017

published in

1 reference

4 August 2017

volume

114

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4 August 2017

issue

1

1 reference

4 August 2017

page(s)

55-61

1 reference

Genotypic and phenotypic spectrum in attenuated variants of Lesch-Nyhan disease

4 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277921

Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277921

Purine metabolism during neuronal differentiation: the relevance of purine synthesis and recycling

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277921

Update on the phenotypic spectrum of Lesch-Nyhan disease and its attenuated variants

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277921

Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277921

Purinergic signalling: from normal behaviour to pathological brain function

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277921

Attenuated variants of Lesch-Nyhan disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277921

Purinergic signalling in the nervous system: an overview

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277921

Reversible compartmentalization of de novo purine biosynthetic complexes in living cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277921

Consequences of impaired purine recycling in dopaminergic neurons

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277921

A human neuronal tissue culture model for Lesch-Nyhan disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277921

Delineation of the motor disorder of Lesch-Nyhan disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277921

Severe pyridine nucleotide depletion in fibroblasts from Lesch-Nyhan patients

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277921

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277921

Self-injury in Lesch-Nyhan disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277921

Biochemical Bases of Accelerated Purine Biosynthesis de Novo in Human Fibroblasts Lacking Hypoxanthine-Guanine Phosphoribosyltransferase

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277921

Purine Metabolism in Normal and Thioguanine-Resistant Neuroblastoma

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277921

The spectrum of HPRT deficiency: an update.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277921

Cognitive abilities of patients with Lesch-Nyhan disease.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277921

Behavior in the Lesch-Nyhan syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277921

Purine and pyrimidine nucleotide concentrations in cells with decreased hypoxanthine-guanine-phosphoribosyltransferase (HGPRT) activity

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277921

Behavioral aspects of Lesch-Nyhan disease and its variants

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277921

Neurocognitive functioning in Lesch-Nyhan disease and partial hypoxanthine-guanine phosphoribosyltransferase deficiency.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277921

Cognitive functioning in Lesch-Nyhan syndrome.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277921

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

26 October 2018

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.11.001

Lesch-Nyhan syndrome treated from the early neonatal period

7 January 2021

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25481104

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2014.11.001

1 reference

4 August 2017

1 reference

4 August 2017

1 reference