| review article | Q7318358 |
| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1105475600 |
| P356 | DOI | 10.1186/S13023-018-0856-9 |
| P2888 | exact match | https://scigraph.springernature.com/pub.10.1186/s13023-018-0856-9 |
| P932 | PMC publication ID | 6042212 |
| P698 | PubMed publication ID | 29996870 |
| P50 | author | Marc Miravitlles | Q40059112 |
| Beatriz Martinez-Delgado | Q42864055 | ||
| P2093 | author name string | Adolfo Baloira | |
| Francisco Dasí | |||
| Francisco Casas | |||
| Miriam Barrecheguren | |||
| Amparo Escribano | |||
| Daniel Pellicer | |||
| Silvia Castillo | |||
| José Luis Lopez-Campos | |||
| Lucía Bañuls | |||
| María Magallón | |||
| María Mercedes Navarro-Garcia | |||
| María Torres-Durán | |||
| P2860 | cites work | The Relationship of the Fibrinogen Cleavage Biomarker Aα-Val360 With Disease Severity and Activity in α1-Antitrypsin Deficiency | Q48002883 |
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| Usefulness of the CAT, LCOPD, EQ-5D and COPDSS scales in understanding the impact of lung disease in patients with alpha-1 antitrypsin deficiency | Q48076378 | ||
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| Rate of progression of lung function impairment in alpha1-antitrypsin deficiency. | Q51127553 | ||
| The Role of Neutrophils in Alpha-1 Antitrypsin Deficiency. | Q51465407 | ||
| Well-Known and Less Well-Known Functions of Alpha-1 Antitrypsin. Its Role in Chronic Obstructive Pulmonary Disease and Other Disease Developments. | Q51465416 | ||
| Oxidation of Z α1-antitrypsin by cigarette smoke induces polymerization: a novel mechanism of early-onset emphysema. | Q51536039 | ||
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| American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. | Q51651054 | ||
| Exploring the role of CT densitometry: a randomised study of augmentation therapy in alpha1-antitrypsin deficiency. | Q51837763 | ||
| Vitamin E and liver damage in MZ heterozygous infants with alpha 1-antitrypsin deficiency. | Q52226310 | ||
| Spanish Guidelines for Management of Chronic Obstructive Pulmonary Disease (GesEPOC) 2017. Pharmacological Treatment of Stable Phase. | Q52658258 | ||
| Accelerated telomere attrition in children and teenagers with α1-antitrypsin deficiency. | Q53071112 | ||
| miR-199a-5p silencing regulates the unfolded protein response in chronic obstructive pulmonary disease and α1-antitrypsin deficiency. | Q53080344 | ||
| What was the impact of the Spanish COPD guidelines (GesEPOC) and how can they be improved? | Q53221278 | ||
| Overdiagnosis of COPD: precise definitions and proposals for improvement. | Q54259680 | ||
| Clarification of the risk of chronic obstructive pulmonary disease in α1-antitrypsin deficiency PiMZ heterozygotes. | Q55315240 | ||
| Actualización sobre indicaciones de búsqueda activa de casos y tratamiento con alfa-1 antitripsina por vía intravenosa en pacientes con enfermedad pulmonar obstructiva crónica asociada a déficit de alfa-1 antitripsina | Q57777561 | ||
| Hereditary alpha-1-antitrypsin deficiency and its clinical consequences | Q21202920 | ||
| Intravenous alpha-1 antitrypsin augmentation therapy for treating patients with alpha-1 antitrypsin deficiency and lung disease | Q24236795 | ||
| An operational definition of epigenetics | Q24568002 | ||
| Histone deacetylase inhibitor (HDACi) suberoylanilide hydroxamic acid (SAHA)-mediated correction of α1-antitrypsin deficiency | Q24619820 | ||
| Targeted gene correction of α1-antitrypsin deficiency in induced pluripotent stem cells | Q24634829 | ||
| Small molecules block the polymerization of Z alpha1-antitrypsin and increase the clearance of intracellular aggregates | Q24645055 | ||
| Alpha-1 antitrypsin deficiency is not a rare disease but a disease that is rarely diagnosed | Q24816929 | ||
| Risk factors for symptom onset in PI*Z alpha-1 antitrypsin deficiency | Q25106595 | ||
| Diagnosing α1-antitrypsin deficiency: how to improve the current algorithm | Q26995311 | ||
| Alpha-1 antitrypsin deficiency targeted testing and augmentation therapy: a Canadian Thoracic Society clinical practice guideline | Q28385458 | ||
| Augmentation therapy for alpha-1 antitrypsin deficiency: towards a personalised approach | Q28392320 | ||
| Unexpected mutations after CRISPR–Cas9 editing in vivo | Q30130913 | ||
| Augmentation therapy reduces frequency of lung infections in antitrypsin deficiency: a new hypothesis with supporting data | Q30619954 | ||
| Desmosine as a biomarker of elastin degradation in COPD: current status and future directions | Q33382031 | ||
| Alpha-1-antitrypsin augmentation therapy in deficient individuals enrolled in the Alpha-1 Foundation DNA and Tissue Bank | Q33452129 | ||
| Modeling inherited metabolic disorders of the liver using human induced pluripotent stem cells. | Q33672762 | ||
| Alpha-1 antitrypsin Pi*SZ genotype: estimated prevalence and number of SZ subjects worldwide. | Q33806741 | ||
| Survival in severe alpha-1-antitrypsin deficiency (PiZZ). | Q33843147 | ||
| 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 | Q34243582 | ||
| α₁-Antitrypsin protease inhibitor MZ heterozygosity is associated with airflow obstruction in two large cohorts | Q34275338 | ||
| Guía española de la enfermedad pulmonar obstructiva crónica (GesEPOC) 2017. Tratamiento farmacológico en fase estable | Q57785642 | ||
| Activation of human? 1,-antitrypsin genes in rat hepatoma � human fibroblast hybrid cell lines is correlated with demethylation | Q58020726 | ||
| Performance of the BODE index in patients with 1-antitrypsin deficiency-related COPD | Q58814192 | ||
| Circulating polymers in 1-antitrypsin deficiency | Q58966863 | ||
| Decreased glutathione and low catalase activity contribute to oxidative stress in children with α-1 antitrypsin deficiency: Table 1 | Q59085589 | ||
| Liver Disease in Alpha1-Antitrypsin Deficiency Detected by Screening of 200,000 Infants | Q66883467 | ||
| The induction of pulmonary emphysema with human leukocyte elastase | Q67670906 | ||
| The natural history of liver disease in alpha 1-antitrypsin deficient children | Q69928645 | ||
| Structural explanation for the deficiency of S alpha 1-antitrypsin | Q71745939 | ||
| Primary prevention in a high-risk group: smoking habits in adolescents with homozygous alpha-1-antitrypsin deficiency (ATD) | Q71785700 | ||
| Preliminary evidence that augmentation therapy diminishes degradation of cross-linked elastin in alpha-1-antitrypsin-deficient humans | Q72321763 | ||
| Longitudinal follow-up of patients with alpha(1)-protease inhibitor deficiency before and during therapy with IV alpha(1)-protease inhibitor | Q73598654 | ||
| The effect of augmentation therapy on bronchial inflammation in alpha1-antitrypsin deficiency | Q74229031 | ||
| High-resolution computed tomography scanning in alpha1-antitrypsin deficiency: relationship to lung function and health status | Q74325972 | ||
| Endothelial nitric oxide synthase as a potential susceptibility gene in the pathogenesis of emphysema in alpha1-antitrypsin deficiency | Q74465538 | ||
| Survival and FEV1 decline in individuals with severe deficiency of alpha1-antitrypsin. The Alpha-1-Antitrypsin Deficiency Registry Study Group | Q74761128 | ||
| Efficient and accurate approaches to the laboratory diagnosis of alpha1-antitrypsin deficiency: The promise of early diagnosis and intervention | Q79397258 | ||
| Measurements of desmosine and isodesmosine by mass spectrometry in COPD | Q80312951 | ||
| Trends in the diagnosis of symptomatic patients with alpha1-antitrypsin deficiency between 1968 and 2003 | Q81215627 | ||
| Clinical course and prognosis of never-smokers with severe alpha-1-antitrypsin deficiency (PiZZ) | Q81746946 | ||
| Lung function in 30-year-old alpha-1-antitrypsin-deficient individuals | Q83268951 | ||
| Reduction of severe exacerbations and hospitalization-derived costs in alpha-1-antitrypsin-deficient patients treated with alpha-1-antitrypsin augmentation therapy | Q83486149 | ||
| Augmentation therapy for alpha1 antitrypsin deficiency: a meta-analysis | Q84661188 | ||
| Age related development of respiratory abnormalities in non-index α-1 antitrypsin deficient studies | Q85816734 | ||
| Adding α-1 antitrypsin deficiency to the newborn screen | Q87019103 | ||
| Is severe progressive liver disease caused by alpha-1-antitrypsin deficiency more common in children or adults? | Q87414237 | ||
| Alpha 1-antitrypsin deficiency | Q93923322 | ||
| Long-term survival expectancy after liver transplantation in children | Q93929234 | ||
| Author's response | Q95618456 | ||
| Alpha-1 antitrypsin deficiency | Q34290021 | ||
| The molecular and cellular pathology of α₁-antitrypsin deficiency. | Q34394649 | ||
| Resveratrol induces glutathione synthesis by activation of Nrf2 and protects against cigarette smoke-mediated oxidative stress in human lung epithelial cells | Q34731017 | ||
| Spontaneous hepatic repopulation in transgenic mice expressing mutant human α1-antitrypsin by wild-type donor hepatocytes | Q34876052 | ||
| Plasma Fibrinogen as a Biomarker for Mortality and Hospitalized Exacerbations in People with COPD. | Q35077912 | ||
| Combination therapy utilizing shRNA knockdown and an optimized resistant transgene for rescue of diseases caused by misfolded proteins | Q35180848 | ||
| Chronic obstructive pulmonary disease in alpha1-antitrypsin PI MZ heterozygotes: a meta-analysis | Q35536217 | ||
| Variable DNA methylation is associated with chronic obstructive pulmonary disease and lung function | Q35813643 | ||
| Association of IREB2 and CHRNA3 polymorphisms with airflow obstruction in severe alpha-1 antitrypsin deficiency | Q35837259 | ||
| Mortality in individuals with severe deficiency of alpha1-antitrypsin: findings from the National Heart, Lung, and Blood Institute Registry | Q36093952 | ||
| Association of cigarette smoking and CRP levels with DNA methylation in α-1 antitrypsin deficiency. | Q36149225 | ||
| IL10 polymorphisms are associated with airflow obstruction in severe alpha1-antitrypsin deficiency. | Q36330718 | ||
| The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency | Q36782392 | ||
| Blood fibrinogen as a biomarker of chronic obstructive pulmonary disease | Q37012728 | ||
| Disorders of protein misfolding: alpha-1-antitrypsin deficiency as prototype | Q37049924 | ||
| Screening and familial testing of patients for alpha 1-antitrypsin deficiency | Q37132577 | ||
| Rapamycin reduces intrahepatic alpha-1-antitrypsin mutant Z protein polymers and liver injury in a mouse model | Q37149157 | ||
| Analysis of off-target effects of CRISPR/Cas-derived RNA-guided endonucleases and nickases. | Q37420333 | ||
| Appropriateness of newborn screening for α1-antitrypsin deficiency | Q37514709 | ||
| Augmentation therapy in alpha-1 antitrypsin deficiency: advances and controversies | Q37774788 | ||
| A review of α1-antitrypsin deficiency | Q37940937 | ||
| Alpha-1 antitrypsin: a potent anti-inflammatory and potential novel therapeutic agent | Q37986292 | ||
| MicroRNAs and respiratory diseases | Q38025957 | ||
| Prevalence of α1-antitrypsin deficiency alleles PI*S and PI*Z worldwide and effective screening for each of the five phenotypic classes PI*MS, PI*MZ, PI*SS, PI*SZ, and PI*ZZ: a comprehensive review | Q38039045 | ||
| Twenty years of polymers: a personal perspective on alpha-1 antitrypsin deficiency | Q38092851 | ||
| The challenge of detecting alpha-1 antitrypsin deficiency | Q38092856 | ||
| Recent advances in α-1-antitrypsin deficiency-related lung disease | Q38111790 | ||
| Role of alpha-1 antitrypsin in human health and disease | Q38198783 | ||
| Indications for active case searches and intravenous alpha-1 antitrypsin treatment for patients with alpha-1 antitrypsin deficiency chronic pulmonary obstructive disease: an update | Q38229802 | ||
| Targeted screening programmes in COPD: how to identify individuals with α1-antitrypsin deficiency | Q38366245 | ||
| The fibrinogen cleavage product Aα-Val360, a specific marker of neutrophil elastase activity in vivo | Q38490484 | ||
| Alpha-1-antitrypsin deficiency: increasing awareness and improving diagnosis | Q38581002 | ||
| Circulating microRNAs as diagnostic and prognostic tools for hepatocellular carcinoma | Q38588428 | ||
| The Diagnosis and Management of Alpha-1 Antitrypsin Deficiency in the Adult | Q38604630 | ||
| Therapeutics: Gene Therapy for Alpha-1 Antitrypsin Deficiency | Q38650541 | ||
| Alpha-1 antitrypsin Pi*Z gene frequency and Pi*ZZ genotype numbers worldwide: an update. | Q38752547 | ||
| Aberrant disulphide bonding contributes to the ER retention of alpha1-antitrypsin deficiency variants. | Q38813513 | ||
| Risk of Lung Disease in PI MZ Heterozygotes. Current Status and Future Research Directions | Q38827548 | ||
| Methods for Optimizing CRISPR-Cas9 Genome Editing Specificity | Q38919610 | ||
| Alpha-1 Antitrypsin Deficiency: Beyond the Protease/Antiprotease Paradigm. | Q38937849 | ||
| An ECLIPSE View of Alpha-1 Antitrypsin Deficiency | Q38937853 | ||
| Biomarkers in Alpha-1 Antitrypsin Deficiency Chronic Obstructive Pulmonary Disease | Q38937858 | ||
| Gene Therapy for Alpha-1 Antitrypsin Deficiency Lung Disease | Q38937862 | ||
| Gene Editing and Genetic Lung Disease. Basic Research Meets Therapeutic Application | Q38990551 | ||
| State-of-the-art testing for alpha-1 antitrypsin deficiency | Q39000503 | ||
| An autophagy-enhancing drug promotes degradation of mutant alpha1-antitrypsin Z and reduces hepatic fibrosis. | Q39696852 | ||
| Oxidative Stress and Polymorphism of Xenobiotic-Metabolizing Enzymes in Two Patients with Severe Alpha-1-Antitrypsin Deficiency | Q39704142 | ||
| A randomized clinical trial of alpha(1)-antitrypsin augmentation therapy | Q40790470 | ||
| Replacement therapy for alpha 1-antitrypsin deficiency associated with emphysema | Q40797789 | ||
| Heteropolymerization of S, I, and Z alpha1-antitrypsin and liver cirrhosis. | Q40850434 | ||
| The Clinical Profile of Subjects Included in the Swedish National Register on Individuals with Severe Alpha 1-Antitrypsin deficiency | Q40980424 | ||
| The impact of smoke exposure on the clinical phenotype of alpha-1 antitrypsin deficiency in Ireland: exploiting a national registry to understand a rare disease. | Q40980448 | ||
| PiSZ alpha-1 antitrypsin deficiency (AATD): pulmonary phenotype and prognosis relative to PiZZ AATD and PiMM COPD. | Q41614676 | ||
| Current and Emerging Treatments for Alpha-1 Antitrypsin Deficiency | Q41822847 | ||
| Sustained miRNA-mediated knockdown of mutant AAT with simultaneous augmentation of wild-type AAT has minimal effect on global liver miRNA profiles. | Q42029205 | ||
| Studies of gamma-glutamyl transferase in alpha-1 antitrypsin deficiency. | Q43096627 | ||
| Genetic epidemiology of alpha‐1 antitrypsin deficiency in North America and Australia/New Zealand: Australia, Canada, New Zealand and the United States of America | Q43639950 | ||
| Asialofetuin liposome-mediated human alpha1-antitrypsin gene transfer in vivo results in stationary long-term gene expression | Q43642814 | ||
| 6-mer peptide selectively anneals to a pathogenic serpin conformation and blocks polymerization. Implications for the prevention of Z alpha(1)-antitrypsin-related cirrhosis | Q43843392 | ||
| Clinical phenotypes of Italian and Spanish patients with α1-antitrypsin deficiency. | Q44086016 | ||
| Unraveling the potential of CRISPR-Cas9 for gene therapy | Q44876995 | ||
| Long-term therapeutic levels of human alpha-1 antitrypsin in plasma after hydrodynamic injection of nonviral DNA. | Q45864764 | ||
| Outcomes for recipients of liver transplantation for alpha-1-antitrypsin deficiency–related cirrhosis. | Q45924678 | ||
| Glutathione S-transferase P1 and lung function in patients with alpha1-antitrypsin deficiency and COPD. | Q46486207 | ||
| Alpha1-antitrypsin deficiency in 26-year-old subjects: lung, liver, and protease/protease inhibitor studies | Q46763820 | ||
| Gene and miRNA expression profiles in PBMCs from patients with severe and mild emphysema and PiZZ alpha1-antitrypsin deficiency | Q47141376 | ||
| European Respiratory Society statement: diagnosis and treatment of pulmonary disease in α1-antitrypsin deficiency. | Q47694601 | ||
| Randomized, Placebo-Controlled Trials in Alpha-1 Antitrypsin Deficiency. | Q47822103 | ||
| Global Strategy for the Diagnosis, Management, and Prevention of Chronic Obstructive Lung Disease 2017 Report: GOLD Executive Summary | Q47951092 | ||
| P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
| P433 | issue | 1 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | peptide | Q172847 |
| Serpin family A member 1 | Q292982 | ||
| globulins | Q321710 | ||
| blood proteins | Q425056 | ||
| alpha-1-antitrypsin deficiency | Q622437 | ||
| P5008 | on focus list of Wikimedia project | ScienceSource | Q55439927 |
| P304 | page(s) | 114 | |
| P577 | publication date | 2018-07-11 | |
| P1433 | published in | Orphanet Journal of Rare Diseases | Q15756117 |
| P1476 | title | Alpha-1 antitrypsin deficiency: outstanding questions and future directions. | |
| P478 | volume | 13 |
| Q90280101 | Clinical considerations in individuals with Alpha-1 Antitrypsin PI*SZ genotype |
| Q89588291 | Diagnosis and treatment of lung disease associated with alpha one-antitrypsin deficiency: A position statement from the Thoracic Society of Australia and New Zealand |
| Q91441126 | SERPINA1 Z allele is associated with cystic fibrosis liver disease |
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