(Q49159972)

18 February 2018

title

Biochemical Evidence of Dysfunction of Brain Neurotransmitters in the Lesch-Nyhan Syndrome (English)

1 reference

https://api.crossref.org/works/10.1056/NEJM198111053051902

8 August 2023

0 references

1 reference

K. G. Lloyd

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6117011

8 August 2023

O. Hornykiewicz

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6117011

8 August 2023

L. Davidson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6117011

8 August 2023

K. Shannak

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6117011

8 August 2023

I. Farley

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6117011

8 August 2023

M. Goldstein

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6117011

8 August 2023

M. Shibuya

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6117011

8 August 2023

W. N. Kelley

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6117011

8 August 2023

I. H. Fox

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6117011

8 August 2023

language of work or name

English

0 references

publication date

1 November 1981

1 reference

18 February 2018

5 November 1981

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=6117011

full work available at URL

8 August 2023

http://www.nejm.org/doi/pdf/10.1056/NEJM198111053051902

1 reference

https://api.crossref.org/works/10.1056/NEJM198111053051902

The New England Journal of Medicine

8 August 2023

published in

1 reference

18 February 2018

volume

305

1 reference

18 February 2018

issue

19

1 reference

18 February 2018

page(s)

1106-1111

1 reference

18 February 2018

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

cites work

2

1 reference

https://api.crossref.org/works/10.1056/NEJM198111053051902

Juvenile gout with brain involvement.

8 August 2023

3

1 reference

https://api.crossref.org/works/10.1056/NEJM198111053051902

The pathological condition of Lesch-Nyhan syndrome. Report of two cases.

8 August 2023

4

1 reference

https://api.crossref.org/works/10.1056/NEJM198111053051902

An autopsy case of the Lesch-Nyhan syndrome: normal HGPRT activity in liver and xanthine calculi in various tissues.

8 August 2023

5

1 reference

https://api.crossref.org/works/10.1056/NEJM198111053051902

Lesch-Nyhan Syndrome: Evidence for Abnormal Adrenergic Function

8 August 2023

6

1 reference

https://api.crossref.org/works/10.1056/NEJM198111053051902

Lesch-Nyhan syndrome: low dopamine-beta-hydroxylase activity and diminished sympathetic response to stress and posture

8 August 2023

7

1 reference

https://api.crossref.org/works/10.1056/NEJM198111053051902

Monoamine Oxidase Activity Decreased in Cells Lacking Hypoxanthine Phosphoribosyltransferase Activity

8 August 2023

8

1 reference

https://api.crossref.org/works/10.1056/NEJM198111053051902

Hypoxanthine-guanine phosphoribosyltransferase mutant glioma cells: diminished monamine oxidase activity

8 August 2023

9

1 reference

https://api.crossref.org/works/10.1056/NEJM198111053051902

Monoamine oxidase and catechol-o-methyltransferase activity in cultured fibroblasts from patients with maple syrup urine disease, Lesch-Nyhan syndrome and healthy controls

8 August 2023

10

1 reference

https://api.crossref.org/works/10.1056/NEJM198111053051902

Occurrence and distribution of aromatic L-amino acid (L-DOPA) decarboxylase in the human brain.

8 August 2023

12

1 reference

https://api.crossref.org/works/10.1056/NEJM198111053051902

Distribution of choline acetyltransferase and glutamate decarboxylase within the substantia nigra and in other brain regions from control and Parkinsonian patients

8 August 2023

14

1 reference

https://api.crossref.org/works/10.1056/NEJM198111053051902

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

8 August 2023

15

1 reference

https://api.crossref.org/works/10.1056/NEJM198111053051902

Protein measurement with the Folin phenol reagent

8 August 2023

16

1 reference

https://api.crossref.org/works/10.1056/NEJM198111053051902

An assay for dopamine-β-hydroxylase activity in tissues and serum

8 August 2023

18

1 reference

https://api.crossref.org/works/10.1056/NEJM198111053051902

Effects of L-5-hydroxytryptophan on monoamine and amino acids turnover in the Lesch-Nyhan syndrome

8 August 2023

20

1 reference

https://api.crossref.org/works/10.1056/NEJM198111053051902

Further Observations on the Use of 5-Hydroxytryptophan in a Child with Lesch-Nyhan Syndrome

8 August 2023

22

1 reference

https://api.crossref.org/works/10.1056/NEJM198111053051902

Postsynaptic supersensitivity after 6-hydroxy-dopamine induced degeneration of the nigro-striatal dopamine system.

8 August 2023

25

1 reference

https://api.crossref.org/works/10.1056/NEJM198111053051902

The transsynaptic relationship between dopamine and serotonin in the caudate nucleus of cats

8 August 2023

26

1 reference

https://api.crossref.org/works/10.1056/NEJM198111053051902

Biochemical Aspects of Neurotransmission in the Developing Brain

8 August 2023

28

1 reference

https://api.crossref.org/works/10.1056/NEJM198111053051902

Control of brain neurotransmitter synthesis by precursor availability and nutritional state

8 August 2023

30

1 reference

https://api.crossref.org/works/10.1056/NEJM198111053051902

8 August 2023

Identifiers

1 reference

18 February 2018

1 reference

18 February 2018