Dopamine beta-hydroxylase deficiency (Q21093171)

PubMed

dopamine beta-hydroxylase

2 September 2020

1 reference

28 September 2019

Jean-Michel Senard

1

Jean-Michel

Senard

1 reference

Dimensions Publication ID

Dimensions

7 August 2022

Philippe Rouet

2

Philippe

Rouet

1 reference

Dimensions Publication ID

Dimensions

1048362086

Orphanet Journal of Rare Diseases

7 August 2022

language of work or name

English

0 references

publication date

30 March 2006

4 references

14 March 2019

19 March 2019

28 September 2019

2 September 2020

4 references

14 March 2019

19 March 2019

28 September 2019

2 September 2020

1

0 references

page(s)

7

0 references

issue

1

0 references

copyright license

Creative Commons Attribution 2.0 Generic

4 references

14 March 2019

19 March 2019

28 September 2019

https://scigraph.springernature.com/pub.10.1186/1750-1172-1-7

2 September 2020

0 references

0 references

cites work

The primary structure of human dopamine-beta-hydroxylase: insights into the relationship between the soluble and the membrane-bound forms of the enzyme

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1459119

19 March 2017

Familial dysautonomia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1459119

Restoration of norepinephrine and reversal of phenotypes in mice lacking dopamine beta-hydroxylase

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1459119

Noradrenaline is essential for mouse fetal development

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1459119

Norepinephrine-deficient mice lack responses to antidepressant drugs, including selective serotonin reuptake inhibitors

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1459119

Human genetics of plasma dopamine beta-hydroxylase activity: applications to research in psychiatry and neurology

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1459119

Metabolic and molecular bases of Menkes disease and occipital horn syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1459119

Isolated failure of autonomic noradrenergic neurotransmission. Evidence for impaired beta-hydroxylation of dopamine

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1459119

The treatment of orthostatic hypotension with dihydroxyphenylserine

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1459119

Dopamine beta-hydroxylase deficiency. A genetic disorder of cardiovascular regulation

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1459119

Inheritance of very low serum dopamine-beta-hydroxylase activity

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1459119

DBH gene variants that cause low plasma dopamine beta hydroxylase with or without a severe orthostatic syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1459119

Endogenous restoration of noradrenaline by precursor therapy in dopamine-beta-hydroxylase deficiency.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1459119

A revised allele frequency estimate and haplotype analysis of the DBH deficiency mutation IVS1+2T → C in African- and European-Americans

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1459119

Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1459119