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| Comparison of COVID-19 Outcomes With Alpha-1 Antitrypsin Deficiency Prevalence in Europe: A Cross-Sectional Study. Cureus 2023 3 15 (1): e34293. Sezgin Y?lmaz, Becel Sinan, Kaplan A?k?n |
| Hepatic decompensation is accelerated in patients with cirrhosis and alpha-1 antitrypsin Pi?MZ genotype. JHEP reports : innovation in hepatology 2022 Jun 4 (6): 100483. Chen Vincent L, Burkholder Daniel A, Moran Isabel J, DiBattista Jacob V, Miller Matthew J, Chen Yanhua, Du Xiaomeng, Oliveri Antonino, Cushing Kelly C, Lok Anna S, Speliotes Elizabeth |
| Alpha-1 antitrypsin deficiency and risk of lung cancer in never-smokers: a multicentre case-control study. BMC cancer 2022 Jan 22 (1): 81. Tubío-Pérez Ramón Antonio, Torres-Durán María, García-Rodríguez María Esmeralda, Candal-Pedreira Cristina, Rey-Brandariz Julia, Pérez-Ríos Mónica, Barros-Dios Juan, Fernández-Villar Alberto, Ruano-Raviña Alber |
| Clinical and functional characteristics of individuals with alpha-1 antitrypsin deficiency: EARCO international registry. Respiratory research 2022 12 23 (1): 352. Miravitlles Marc, Turner Alice M, Torres-Duran María, Tanash Hanan, Rodríguez-García Carlota, López-Campos José Luis, Chlumsky Jan, Guimaraes Catarina, Rodríguez-Hermosa Juan Luis, Corsico Angelo, Martinez-González Cristina, Hernández-Pérez José María, Bustamante Ana, Parr David G, Casas-Maldonado Francisco, Hecimovic Ana, Janssens Wim, Lara Beatriz, Barrecheguren Miriam, González Cruz, Stolk Jan, Esquinas Cristina, Clarenbach Christian |
| Disease progression in patients with PI*ZZ alpha-1 antitrypsin deficiency. European journal of gastroenterology & hepatology 2022 7 34 (8): 852-856. Shen Katie, Lyu Ruishen, Sengupta Shreya, Wakim-Fleming Jami |
| Disease Status at Diagnosis in Danish Children with ? 1 -antitrypsin Deficiency. Journal of pediatric gastroenterology and nutrition 2022 9 75 (5): 629-634. Winther Christina Louise, Nyrann Sofie, Nielsen Rasmus Gaardskaer, Duno Morten, Johansen Klaus Birkelund, Helt Thora Wesenberg, Brix Christensen Vibe |
| Distribution of the Clinical Manifestations of Alpha 1 Antitrypsin Deficiency in Respiratory Outpatients from an Area of Northern Italy. Respiration; international review of thoracic diseases 2022 7 101 (9): 851-858. Aiello Marina, Marchi Laura, Ferrarotti Ilaria, Frizzelli Annalisa, Pisi Roberta, Calzetta Luigino, Manari Gaia, Pelà Giovanna, Russo Annalisa, Minerba Roberta, Aloe Rosalia, Ranzieri Silvia, Corradi Massimo, Chetta Alfre |
| Frequency of alleles and genotypes associated with alpha-1 antitrypsin deficiency in clinical and general populations: Revelations about underdiagnosis. Pulmonology 2022 3 . Hernández-Pérez J M, Ramos-Díaz R, Vaquerizo-Pollino C, Pérez J |
| Frequency of alpha-1 antitrypsin deficiency and unexpected results in COPD patients in Turkey; rare variants are common. Turkish journal of medical sciences 2022 11 52 (5): 1478-1485. Çörtük Mustafa, Demirkol Bar??, Arslan Melih Akay, ?lhan Umut, Kalkan Yunus Emre, Turan Demet, Gül ?ule, Ç?narka Halit, Baydili Kür?ad Nuri, Çetinkaya Erdo? |
| Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases. Journal of personalized medicine 2022 7 12 (7): . Sotnikova Evgeniia A, Kiseleva Anna V, Kutsenko Vladimir A, Zharikova Anastasia A, Ramensky Vasily E, Divashuk Mikhail G, Vyatkin Yuri V, Klimushina Marina V, Ershova Alexandra I, Revazyan Karina Z, Skirko Olga P, Zaicenoka Marija, Efimova Irina A, Pokrovskaya Maria S, Kopylova Oksana V, Glechan Anush M, Shalnova Svetlana A, Meshkov Alexey N, Drapkina Oxana |
| Thrombotic risk determined by rare and common SERPINA1 variants in a population-based cohort study. Journal of thrombosis and haemostasis : JTH 2022 3 20 (6): 1421-1427. Manderstedt Eric, Halldén Christer, Lind-Halldén Christina, Elf Johan, Svensson Peter J, Engström Gunnar, Melander Olle, Baras Aris, Lotta Luca A, Zöller Bengt, |
| Unique and shared systemic biomarkers for emphysema in Alpha-1 Antitrypsin deficiency and chronic obstructive pulmonary disease. EBioMedicine 2022 9 84 104262. Serban K A, Pratte K A, Strange C, Sandhaus R A, Turner A M, Beiko T, Spittle D A, Maier L, Hamzeh N, Silverman E K, Hobbs B D, Hersh C P, DeMeo D L, Cho M H, Bowler R |
| Association between circulating alpha-1 antitrypsin polymers and lung and liver disease. Respiratory research 2021 Sep 22 (1): 244. Núñez Alexa, Belmonte Irene, Miranda Elena, Barrecheguren Miriam, Farago Georgina, Loeb Eduardo, Pons Mònica, Rodríguez-Frías Francisco, Gabriel-Medina Pablo, Rodríguez Esther, Genescà Joan, Miravitlles Marc, Esquinas Cristi |
| Association of Alpha 1-antitrypsin Deficiency and Genetic Predisposition in Primary Spontaneous Pneumothorax. Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2021 Jul 30 (7): 775-779. Sahin Taner, Ozsoy Ibrahim Ethem, Tezcan Mehmet Akif, Kocer Derya, Erdogan Mur |
| A Particular SORL1 Micro-Haplotype May Prevent from Severe Liver Disease in a French Cohort of Alpha 1-Antitrypsin Deficiency Children. Journal of pediatric gastroenterology and nutrition 2021 Mar . Joly Philippe, Ruiz Mathias, Garin Roman, Karatas Esra, Lachaux Alain, Restier Lioara, Belmalih Abdelouahed, Renoux Céline, Lombard Christine, Dechomet Magali, Bouchecareilh Mari |
| Air Trapping Is Associated with Heterozygosity for Alpha-1 Antitrypsin Mutations in Patients with Asthma. Respiration; international review of thoracic diseases 2021 2 100 (4): 318-327. Aiello Marina, Ghirardini Marianna, Marchi Laura, Frizzelli Annalisa, Pisi Roberta, Ferrarotti Ilaria, Bertorelli Giuseppina, Chetta Alfre |
| Alpha 1 Antitrypsin Deficiency, Two Cases of Heterozygous S and Clayton Null Alleles. Spartan medical research journal 2021 3 2 (2): 6382. Rosenbaum Eric M, Chapaton-Rivard Elisabeth, Overdorf Colle |
| Alpha-1 antitrypsin deficiency hidden in allegedly normal variants. The Journal of asthma : official journal of the Association for the Care of Asthma 2021 6 59 (7): 1372-1375. Suárez-Lorenzo Isadora, Hernández-Brito Elisa, Almeida-Quintana Lourdes, Llanos Cesar García-de, González-Quevedo Nereida, Carrillo-Díaz Teresa, Rodríguez-Gallego Carl |
| Hepatobiliary phenotypes of adults with alpha-1 antitrypsin deficiency. Gut 2021 2 71 (2): 415-423. Fromme Malin, Schneider Carolin V, Pereira Vitor, Hamesch Karim, Pons Monica, Reichert Matthias C, Benini Federica, Ellis Paul, H Thorhauge Katrine, Mandorfer Mattias, Burbaum Barbara, Woditsch Vivien, Chorostowska-Wynimko Joanna, Verbeek Jef, Nevens Frederik, Genesca Joan, Miravitlles Marc, Nuñez Alexa, Schaefer Benedikt, Zoller Heinz, Janciauskiene Sabina, Abreu Nélia, Jasmins Luís, Gaspar Rui, Liberal Rodrigo, Macedo Guilherme, Mahadeva Ravi, Gomes Catarina, Schneider Kai Markus, Trauner Michael, Krag Aleksander, Gooptu Bibek, Thorburn Douglas, Marshall Aileen, Hurst John R, Lomas David A, Lammert Frank, Gaisa Nadine T, Clark Virginia, Griffiths William, Trautwein Christian, Turner Alice M, McElvaney Noel G, Strnad Pav |
| Heterozygosity of the Alpha 1-Antitrypsin Pi*Z Allele and Risk of Liver Disease. Hepatology communications 2021 8 5 (8): 1348-1361. Hakim Aaron, Moll Matthew, Qiao Dandi, Liu Jiangyuan, Lasky-Su Jessica A, Silverman Edwin K, Vilarinho Silvia, Jiang Gordon Z, Hobbs Brian D, Cho Michael |
| Investigating the Link between Alpha-1 Antitrypsin Deficiency and Abdominal Aortic Aneurysms. Annals of vascular surgery 2021 8 77 195-201. Pini Laura, Peroni Michele, Zanotti Camilla, Pini Alessandro, Bossoni Erika, Giordani Jordan, Bargagli Elena, Perger Elisa, Ferrarotti Ilaria, Vizzardi Enrico, Tiberio Laura, Bonardelli Stefano, Tantucci Claud |
| Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum. The application of clinical genetics 2021 4 14 173-194. Seixas Susana, Marques Patricia Isab |
| Relationship between alpha-1 antitrypsin deficiency and obstructive sleep apnea. Sleep & breathing = Schlaf & Atmung 2021 5 25 (4): 2091-2097. Megenhardt Lindsay, Ransdell Sarah, Clark-LoCascio Jodi, Pleasants Roy A, Brantly Mark, Strange Charl |
| Relationship between Depression and Anxiety, Health Status and Lung Function in Patients with Alpha-1 Antitrypsin Deficiency. COPD 2021 10 18 (6): 621-629. Mobeen Farah, Edgar Ross G, Pye Anita, Stockley Robert A, Turner Alice |
| Utility of Transient Elastography for the Screening of Liver Disease in Patients with Alpha1-Antitrypsin Deficiency. Journal of clinical medicine 2021 4 10 (8): . Pons Mònica, Núñez Alexa, Esquinas Cristina, Torres-Durán María, Rodríguez-Hermosa Juan Luis, Calle Myriam, Tubio-Pérez Ramón, Belmonte Irene, Rodríguez-Frías Francisco, Rodríguez Esther, Genescà Joan, Miravitlles Marc, Barrecheguren Miri |
| A Data-Driven Approach to Carrier Screening for Common Recessive Diseases. Journal of personalized medicine 2020 9 10 (3): . Kiseleva Anna V, Klimushina Marina V, Sotnikova Evgeniia A, Divashuk Mikhail G, Ershova Alexandra I, Skirko Olga P, Kurilova Olga V, Zharikova Anastasia A, Khlebus Eleonora Yu, Efimova Irina A, Pokrovskaya Maria S, Slominsky Petr A, Shalnova Svetlana A, Meshkov Alexey N, Drapkina Oxana |
| Alpha 1-Antitrypsin deficiency in liver explants in a Mexican cohort: A unique cohort to assess the role of heterozygous genotypes in liver disease. Clinics and research in hepatology and gastroenterology 2020 10 45 (3): 101538. Karatas E, Bouchecareilh |
| Evaluation of the Small Airways in Patients with Chronic Obstructive Pulmonary Disease and Alpha-1 Antitrypsin Deficiency. International journal of chronic obstructive pulmonary disease 2020 10 15 2267-2274. Ferrari da Cruz Thaís, Rufino Rogerio, Lopes Agnaldo José, Noronha Arnaldo, Medeiros Anselmo Fernando, Henrique da Costa Cláud |
| Serum Levels of Glutamate-Pyruvate Transaminase, Glutamate-Oxaloacetate Transaminase and Gamma-Glutamyl Transferase in 1494 Patients with Various Genotypes for the Alpha-1 Antitrypsin Gene. Journal of clinical medicine 2020 12 9 (12): . Hernández Pérez José María, Blanco Ignacio, Jesús Sánchez Medina Agustín, Díaz Hernández Laura, Antonio Pérez Pérez Jo |
| The Distribution of Alpha-1 Antitrypsin Genotypes Between Patients with COPD/Emphysema, Asthma and Bronchiectasis. International journal of chronic obstructive pulmonary disease 2020 11 15 2827-2836. Veith Martina, Tüffers Julia, Peychev Erika, Klemmer Andreas, Kotke Viktor, Janciauskiene Sabina, Wilhelm Susanne, Bals Robert, Koczulla Andreas Rembert, Vogelmeier Claus Franz, Greulich Ti |
- Page last reviewed:Feb 1, 2023
- Page last updated:Mar 22, 2023
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