(Q36925199)

17 August 2017

Alpha1-antitrypsin deficiency: a clinical-genetic overview (English)

1 reference

17 August 2017

Tanya N Nelson

2

0 references

Benjamin Jung

object named as

Benjamin Jung

series ordinal

3

0 references

author name string

Raja T Abboud

series ordinal

1

1 reference

PMCID

3681178

17 August 2017

Andre Mattman

series ordinal

4

1 reference

17 August 2017

31 March 2011

1 reference

The Application of Clinical Genetics

17 August 2017

1 reference

17 August 2017

4

1 reference

17 August 2017

55-65

1 reference

Creative Commons Attribution-NonCommercial 3.0 Unported

17 August 2017

start time

1 March 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Alpha-1-antitrypsin deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

Therapeutic efficacy of α-1 antitrypsin augmentation therapy on the loss of lung tissue: an integrated analysis of 2 randomised clinical trials using computed tomography densitometry

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

Intravenous alpha-1 antitrypsin augmentation therapy for treating patients with alpha-1 antitrypsin deficiency and lung disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

Clinical practice. Alpha1-antitrypsin deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

Laboratory diagnosis of alpha1-antitrypsin deficiency.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

IL10 polymorphisms are associated with airflow obstruction in severe alpha1-antitrypsin deficiency.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

Rapid and inexpensive detection of alpha1-antitrypsin deficiency-related alleles S and Z by a real-time polymerase chain reaction suitable for a large-scale population-based screening

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

Delay in diagnosis of alpha1-antitrypsin deficiency: a continuing problem

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

Alpha1-antitrypsin deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

Emphysema in alpha1-antitrypsin deficiency: does replacement therapy affect outcome?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

Alpha1-antitrypsin polymerization and the serpinopathies: pathobiology and prospects for therapy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

A randomized clinical trial of alpha(1)-antitrypsin augmentation therapy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

Replacement therapy for alpha 1-antitrypsin deficiency associated with emphysema

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

Pathogenesis of emphysema. Assessment of basic science concepts through clinical investigation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

The alpha 1-antitrypsin gene and its mutations. Clinical consequences and strategies for therapy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

Neonatal screening for alpha1-antitrypsin deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

alpha1-antitrypsin genotypes and the acute-phase response to open heart surgery.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

Decline in FEV1 related to smoking status in individuals with severe alpha1-antitrypsin deficiency (PiZZ).

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

Genetics and respiratory disease. 2. Alpha 1-antitrypsin deficiency, cirrhosis and emphysema

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

Socioeconomic factors, health behaviors, and mortality: results from a nationally representative prospective study of US adults.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

Does alpha1-antitrypsin augmentation therapy slow the annual decline in FEV1 in patients with severe hereditary alpha1-antitrypsin deficiency? Wissenschaftliche Arbeitsgemeinschaft zur Therapie von Lungenerkrankungen (WATL) alpha1-AT study group.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

Alpha 1-antitrypsin deficiency: evaluation of bronchiectasis with CT.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

Variability of pulmonary function in alpha-1-antitrypsin deficiency: clinical correlates.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

Alpha1-antitrypsin deficiency and autophagy

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

Outdoor air pollution is associated with rapid decline of lung function in alpha-1-antitrypsin deficiency

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

CT scan appearance, densitometry, and health status in protease inhibitor SZ alpha1-antitrypsin deficiency.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

alpha1-Antitrypsin deficiency: best clinical practice

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

Phenotypic differences in alpha 1 antitrypsin-deficient sibling pairs may relate to genetic variation.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

Exploring the role of CT densitometry: a randomised study of augmentation therapy in alpha1-antitrypsin deficiency.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

Rate of progression of lung function impairment in alpha1-antitrypsin deficiency.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

Diagnosis of alpha-1-antitrypsin deficiency: An algorithm of quantification, genotyping, and phenotyping.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

Z alpha1-antitrypsin polymerizes in the lung and acts as a neutrophil chemoattractant

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

Alpha1-antitrypsin deficiency: a position statement of the Canadian Thoracic Society.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

Decline in FEV1 among patients with severe hereditary alpha 1-antitrypsin deficiency type PiZ.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

Characterization of the New Serum Protein Reference Material ERM-DA470k/IFCC: Value Assignment by Immunoassay

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3681178

Consensus of a group of professional societies and diagnostic companies on guidelines for interim reference ranges for 14 proteins in serum based on the standardization against the IFCC/BCR/CAP Reference Material (CRM 470). International Federation

4 December 2018

1 reference

12 December 2020

Guidelines for the approach to the patient with severe hereditary alpha-1-antitrypsin deficiency. American Thoracic Society

1 reference

12 December 2020

Survival and FEV1 decline in individuals with severe deficiency of alpha1-antitrypsin. The Alpha-1-Antitrypsin Deficiency Registry Study Group

1 reference

12 December 2020

Pharmacokinetic study of alpha1-antitrypsin infusion in alpha1-antitrypsin deficiency

1 reference

12 December 2020

Diagnostic flow chart for targeted detection of alpha1-antitrypsin deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

Biochemical efficacy and safety of monthly augmentation therapy for alpha 1-antitrypsin deficiency

1 reference

12 December 2020

Augmentation therapy for alpha1 antitrypsin deficiency: a meta-analysis

1 reference

12 December 2020

Atopy, asthma, and emphysema in patients with severe alpha-1-antitrypysin deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

Alpha 1-antitrypsin Pi-types in 965 COPD patients

1 reference

12 December 2020

Alpha 1-antitrypsin genetic polymorphism in ANCA-positive systemic vasculitis

1 reference

12 December 2020

Severe panniculitis caused by homozygous ZZ alpha1-antitrypsin deficiency treated successfully with human purified enzyme (Prolastin)

1 reference

12 December 2020

Longitudinal follow-up of patients with alpha(1)-protease inhibitor deficiency before and during therapy with IV alpha(1)-protease inhibitor

1 reference

12 December 2020

Inherited chronic obstructive pulmonary disease: new selective-sequencing workup for alpha1-antitrypsin deficiency identifies 2 previously unidentified null alleles

1 reference

12 December 2020

Alpha 1-antitrypsin deficiency and liver cirrhosis in adults. An analysis of 35 Swedish autopsied cases

1 reference

12 December 2020

Current status of alpha-1-antitrypsin replacement therapy: recommendations for the management of patients with severe hereditary deficiency. Ad Hoc Committee on Alpha-1-Antitrypsin Replacement Therapy of the Standards Committee, Canadian Thoracic So

1 reference

12 December 2020

Failure to Achieve Adequate Serum Levels With Monthly Replacement Therapy in α1-Antitrypsin Deficiency

1 reference

12 December 2020

Long-term treatment of alpha1-antitrypsin deficiency-related pulmonary emphysema with human alpha1-antitrypsin. Wissenschaftliche Arbeitsgemeinschaft zur Therapie von Lungenerkrankungen (WATL)-alpha1-AT-study group

1 reference

12 December 2020

Identifiers

DOI

10.2147/TACG.S10604

1 reference

17 August 2017

1 reference

17 August 2017

1 reference

PMCID

3681178