Hereditary alpha-1-antitrypsin deficiency and its clinical consequences (Q21202920)

Dimensions Publication ID

Dimensions

1053473059

18 August 2022

Jan Stolk

series ordinal

2

author given names

Jan

author last names

Stolk

1 reference

Dimensions Publication ID

Dimensions

1053473059

Orphanet Journal of Rare Diseases

18 August 2022

language of work or name

English

0 references

publication date

19 June 2008

10 references

14 March 2019

21 March 2019

24 March 2019

22 April 2019

20 November 2019

27 November 2019

13 December 2019

20 July 2020

31 January 2021

15 July 2021

10 references

14 March 2019

21 March 2019

24 March 2019

22 April 2019

20 November 2019

27 November 2019

13 December 2019

20 July 2020

31 January 2021

15 July 2021

3

0 references

page(s)

16

0 references

issue

1

0 references

copyright license

Creative Commons Attribution 2.0 Generic

10 references

14 March 2019

21 March 2019

24 March 2019

22 April 2019

20 November 2019

27 November 2019

13 December 2019

20 July 2020

31 January 2021

on focus list of Wikimedia project

15 July 2021

copyright status

copyrighted

0 references

ScienceSource

0 references

exact match

https://scigraph.springernature.com/pub.10.1186/1750-1172-3-16

0 references

cites work

Global Strategy for the Diagnosis, Management, and Prevention of Chronic Obstructive Pulmonary Disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441617

Gene regulation of the serine proteinase inhibitors alpha1-antitrypsin and alpha1-antichymotrypsin

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441617

Oncostatin M is a potent stimulator of alpha1-antitrypsin secretion in lung epithelial cells: modulation by transforming growth factor-beta and interferon-gamma

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441617

The electrophoretic α1-globulin pattern of serum in α1-antitrypsin deficiency. 1963.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441617

Estimated numbers and prevalence of PI*S and PI*Z alleles of alpha1-antitrypsin deficiency in European countries.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441617

Polymers of Z alpha1-antitrypsin co-localize with neutrophils in emphysematous alveoli and are chemotactic in vivo

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441617

Predictors of mortality in alpha1-antitrypsin deficiency

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441617

Worldwide racial and ethnic distribution of alpha1-antitrypsin deficiency: summary of an analysis of published genetic epidemiologic surveys

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441617

Alpha1-antitrypsin deficiency--a model for conformational diseases

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441617

Clinical features and prognosis of life time non-smokers with severe alpha 1-antitrypsin deficiency

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441617

Antielastases of the human alveolar structures. Implications for the protease-antiprotease theory of emphysema

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441617

Young adults with alpha 1-antitrypsin deficiency identified neonatally: their health, knowledge about and adaptation to the high-risk condition

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441617

Molecular basis of alpha-1-antitrypsin deficiency

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441617

The oxidative inactivation of human alpha-1-proteinase inhibitor. Further evidence for methionine at the reactive center

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441617

Natural History and Life Expectancy in Severe Alpha1-Antitrypsin Deficiency, Pi Z

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441617

Involvement of Sp1 elements in the promoter activity of the alpha1-proteinase inhibitor gene.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441617

Complete sequence of the cDNA for human .alpha.1-antitrypsin and the gene for the S variant

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441617

Identification of individuals with alpha-1-antitrypsin deficiency by a targeted screening program.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441617

Ongoing research in Europe: Alpha One International Registry (AIR) objectives and development

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441617

Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha1-antitrypsin 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=2441617

American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin 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=2441617

PULMONARY EMPHYSEMA AND ALPHA1-ANTITRYPSIN 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=2441617

Physical and social impact of alpha 1-antitrypsin deficiency: results of a survey.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441617

A matched-pair study of the leukocyte elastase-like activity in normal persons and in emphysematous patients with and without alpha 1-antitrypsin deficiency

29 November 2018

1 reference

12 December 2020

Genetic study of a family with two members with Weber Christian disease (panniculitis) and alpha 1 antitrypsin deficiency

1 reference

12 December 2020

Distribution of alpha 1-antitrypsin variants in a US white population

1 reference

12 December 2020

Deletion 14q(q24.3 to q32.1) syndrome: significance of peculiar facial appearance in its diagnosis, and deletion mapping of Pi(alpha 1-antitrypsin)

1 reference

12 December 2020

Emphysema of early onset associated with a complete deficiency of alpha-1-antitrypsin (null homozygotes)

1 reference

12 December 2020

Cholangiocarcinoma in two siblings with emphysema and alpha-1-antitrypsin deficiency

1 reference

12 December 2020

Airways obstruction and two year survival in patients with severe alpha 1-antitrypsin deficiency

1 reference

12 December 2020

The liver in adolescents with alpha 1-antitrypsin deficiency

1 reference

12 December 2020

Clinical features of individuals with PI*SZ phenotype of alpha 1-antitrypsin deficiency. alpha 1-Antitrypsin Deficiency Registry Study Group

1 reference

12 December 2020

Alpha 1-antitrypsin deficiency: memorandum from a WHO meeting

1 reference

12 December 2020

Modification of gene expression and increase in alpha1-antitrypsin (alpha1-AT) secretion after homologous recombination in alpha1-AT-deficient monocytes

1 reference

12 December 2020

Prognosis of alpha-1-antitrypsin deficiency-related liver disease in the era of paediatric liver transplantation

1 reference

12 December 2020

The polymorphism of "prealbumins" and alpha-1-antitrypsin in human sera

1 reference

12 December 2020

Liver Disease in Alpha1-Antitrypsin Deficiency Detected by Screening of 200,000 Infants

1 reference

12 December 2020

Amino acid substitution Glu→Lys in α1-antitrypsin PiZ

1 reference

12 December 2020

Alpha 1-antitrypsin deficiency in Europe: geographical distribution of Pi types S and Z

1 reference

12 December 2020

Gene regulation of the serine proteinase inhibitors α 1 -antitrypsin and α 1 -antichymotrypsin

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1750-1172-3-16

7 January 2021

inferred from DOI database lookup

The Electrophoretic α;1-Globulin Pattern of Serum in α;1-Antitrypsin Deficiency

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1750-1172-3-16

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1186/1750-1172-3-16

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2396800

Dimensions Publication ID

1053473059

0 references

OpenCitations bibliographic resource ID

2396800

1 reference