Works matching Alpha 1-antitrypsin deficiency

Results: 610

Expert Perspectives on the Management of Alpha 1-Antitrypsin Deficiency.

Published in:

Acta Médica Portuguesa, 2023, v. 36, n. 1, p. 49, doi. 10.20344/amp.18497

By:

CONDE, Bebiana;
COSTA, Filipa;
GOMES, Joana;
LOPES, António Paulo;
MINEIRO, Maria Alexandra;
RODRIGUES, Orlando;
SANTOS, Cristina;
SEMEDO, Luísa;
SUCENA, Maria;
GUIMARÃES, Catarina

Publication type:

Article

A rare case of alpha 1-antitrypsin deficiency associated with hypogammaglobulinemia and recurrent pulmonary thrombosis.

Published in:

Annals of Thoracic Medicine, 2014, v. 9, n. 1, p. 39, doi. 10.4103/1817-1737.124442

By:

Gupta, Raghav;
Sridhara, Srilekha;
Wood, John A.

Publication type:

Article

Alpha 1-Antitrypsin Deficiency: A Disorder of Proteostasis-Mediated Protein Folding and Trafficking Pathways.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 4, p. 1493, doi. 10.3390/ijms21041493

By:

Karatas, Esra;
Bouchecareilh, Marion

Publication type:

Article

Unusually difficult clinical presentation of an infant suffering from congenital cytomegalovirus (CMV) infection combined with alpha 1-antitrypsin (A1AT) deficiency.

Published in:

2014

By:

Potocnjak, Ines;
Tesovic, Goran;
Kuna, Andrea Tesija;
Stefanovic, Mario;
Zaja, Orjena

Publication type:

Case Study

The Clinical Profile of Subjects Included in the Swedish National Register on Individuals with Severe Alpha 1-Antitrypsin deficiency.

Published in:

COPD: Journal of Chronic Obstructive Pulmonary Disease, 2015, v. 12, p. 36, doi. 10.3109/15412555.2015.1021909

By:

Piitulainen, Eeva;
Tanash, Hanan A.

Publication type:

Article

Anti-neutrophil-elastase defenses of the lower respiratory tract in alpha 1-antitrypsin deficiency directly augmented with an aerosol of alpha 1-antitrypsin.

Published in:

1989

By:

Hubbard, Richard C.;
Brantly, Mark L.;
Sellers, Stephanie E.;
Mitchell, Marc E.;
Crystal, Ronald G.;
Hubbard, R C;
Brantly, M L;
Sellers, S E;
Mitchell, M E;
Crystal, R G

Publication type:

journal article

Alpha 1-antitrypsin deficiency in patients with chronic obstructive pulmonary disease patients: is systematic screening necessary?

Published in:

BMC Research Notes, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13104-018-4043-9

By:

da Costa, Cláudia Henrique;
Noronha Filho, Arnaldo José;
Marques e Silva, Rosa Maria Fernambel;
da Cruz, Thaís Ferrari;
de Oliveira Monteiro, Valeria;
Pio, Margareth;
Rufino, Rogério Lopes

Publication type:

Article

Acquired alpha 1-antitrypsin deficiency in tropical pulmonary eosinophilia.

Published in:

Indian Journal of Medical Research, 2011, v. 134, n. 1, p. 79

By:

Ray, Debidas;
Harikrishna, S.;
Immanuel, Chandra;
Victor, Lalitha;
Subramanyam, Sudha;
Kumaraswami, V.

Publication type:

Article

Protease-Specific Biomarkers to Analyse Protease Inhibitors for Emphysema Associated with Alpha 1-Antitrypsin Deficiency. An Overview of Current Approaches.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 3, p. 1065, doi. 10.3390/ijms22031065

By:

Viglio, Simona;
Bak, Elisabeth G.;
Schouten, Iris G. M.;
Iadarola, Paolo;
Stolk, Jan

Publication type:

Article

Molecular confirmation of alpha 1-antitrypsin deficiency in liver transplant setting: A province-wide experience.

Published in:

Hepatology Forum, 2024, v. 5, n. 2, p. 68, doi. 10.14744/hf.2022.2022.0032

By:

Bukhari, Hussam;
Mattman, Andre;
Ritchie, Gordon;
Burns, Laura;
Yoshida, Eric;
Schaeffer, David;
Hui-Min Yang

Publication type:

Article

Prevalence of alpha-1 antitrypsin deficiency and allele frequency in patients with COPD in Brazil.

Published in:

Brazilian Journal of Pulmonology / Jornal Brasileiro de Pneumologia, 2016, v. 42, n. 5, p. 311, doi. 10.1590/S1806-37562015000000180

By:

Russo, Rodrigo;
Zillmer, Laura Russo;
Nascimento, Oliver Augusto;
Manzano, Beatriz;
Ivanaga, Ivan Teruaki;
Fritscher, Leandro;
Lundgren, Fernando;
Miravitlles, Marc;
Del Carlos Gondim, Heicilainy;
Santos Junior, Gildo;
Alves, Marcela Amorim;
Oliveira, Maria Vera;
de Souza, Altay Alves Lino;
Uchoa Sales, Maria Penha;
Jardim, José Roberto

Publication type:

Article

Frequency of alpha-1 antitrypsin deficiency and unexpected results in COPD patients in Turkey; rare variants are common.

Published in:

Turkish Journal of Medical Sciences, 2022, v. 52, n. 5, p. 1478, doi. 10.55730/1300-0144.5486

By:

ÇÖRTÜK, Mustafa;
DEMİRKOL, Barış;
ARSLAN, Melih Akay;
İLHAN, Umut;
KALKAN, Yunus Emre;
TURAN, Demet;
GÜL, Şule;
ÇINARKA, Halit;
BAYDİLİ, Kürşad Nuri;
ÇETİNKAYA, Erdoğan

Publication type:

Article

Results from a large targeted screening program for alpha-1-antitrypsin deficiency: 2003 - 2015.

Published in:

2016

By:

Greulich, Timm;
Nell, Christoph;
Herr, Christian;
Vogelmeier, Claus;
Kotke, Viktor;
Wiedmann, Stefan;
Wencker, Marion;
Bals, Robert;
Koczulla, Andreas Rembert

Publication type:

journal article

The Prevalence of Alpha-1 Antitrypsin Deficiency Among Patients Found to Have Airflow Obstruction.

Published in:

COPD: Journal of Chronic Obstructive Pulmonary Disease, 2012, v. 9, n. 4, p. 352, doi. 10.3109/15412555.2012.669433

By:

Rahaghi, Franck F.;
Sandhaus, Robert A.;
Strange, Charlie;
Hogarth, Douglas Kyle;
Eden, Edward;
Stocks, James M.;
Krowka, Michael J.;
Stoller, James K.

Publication type:

Article

Cause-specific mortality in individuals with severe alpha 1-antitrypsin deficiency in comparison with the general population in Sweden.

Published in:

International Journal of COPD, 2016, v. 11, p. 1663, doi. 10.2147/COPD.S109173

By:

Tanash, Hanan A.;
Ekström, Magnus;
Wagner, Philippe;
Piitulainen, Eeva

Publication type:

Article

Divertículo da traqueia infectado: um caso de associação rara com deficiência de alfa-1 antitripsina.

Published in:

2014

By:

Alves Amaral, Cecília Beatriz;
Silva, Sónia;
Feijó, Salvato

Publication type:

Case Study

Densitometric and Functional Progression in Patients with Alpha-1 Antitrypsin Deficiency Genotype SZ.

Published in:

Journal of Clinical Medicine, 2025, v. 14, n. 5, p. 1725, doi. 10.3390/jcm14051725

By:

Esmaili, Soha;
Calle Rubio, Myriam;
Álvarez-Sala, José Luis;
Esmaili, Iman;
Rodríguez Hermosa, Juan Luis

Publication type:

Article

European Alpha-1 Research Collaboration (EARCO) in Portugal: The Future Is Happening.

Published in:

Acta Médica Portuguesa, 2024, v. 37, n. 11, p. 754, doi. 10.20344/amp.20953

By:

SUCENA, Maria;
MARÇÔA, Raquel;
GUIMARÃES, Catarina

Publication type:

Article

Alpha-1 Antitrypsin Deficiency: Principles of Care.

Published in:

Acta Médica Portuguesa, 2020, v. 33, n. 6, p. 433, doi. 10.20344/amp.12950

By:

RODRIGUES, Joana F.;
MINEIRO, Alexandra;
REIS, António;
VENTURA, David G.;
FERNANDEZ-LLIMOS, Fernando;
COSTA, Filipa;
GOMES, Joana;
SILVA, José Manuel;
LOPES, Paulo;
CORDEIRO, Carlos Robalo

Publication type:

Article

Incidental alpha-1-antitrypsin deficiency found in post-transplant liver allografts: Report of two cases.

Published in:

Hepatology Forum, 2021, v. 2, n. 1, p. 31, doi. 10.14744/hf.2020.2020.0013

By:

Lee, Jonathan;
Yoshida, Eric M.;
Mattman, Andre;
Marquez, Vladimir;
Bukhari, Hussam;
Farnell, David;
Hui-Min Yang

Publication type:

Article

Immunohistochemical and Ultrastructural Features of Hepatocellular Cytoplasmic Globules in Venous Outflow Impairment.

Published in:

2019

By:

Buglioni, Alessia;
Wu, Tsung-Teh;
Mounajjed, Taofic

Publication type:

journal article

Alpha 1-antitrypsin deficiency. Impact of genetic discovery on medicine and society.

Published in:

1994

By:

Wulfsberg, E A;
Hoffmann, D E;
Cohen, M M

Publication type:

journal article

Lung function in adolescents with alpha 1-antitrypsin deficiency.

Published in:

1994

By:

Sveger, T;
Piitulainen, E;
Arborelius, M Jr

Publication type:

journal article

High prevalence of viral infection in adults with homozygous and heterozygous alpha 1-antitrypsin deficiency and chronic liver disease.

Published in:

1992

By:

Propst, Theresa;
Propst, Albert;
Dietze, Otto;
Judmaier, Gert;
Braunsteiner, Herbert;
Vogel, Wolfgang;
Propst, T;
Propst, A;
Dietze, O;
Judmaier, G;
Braunsteiner, H;
Vogel, W

Publication type:

journal article

Liver Disease in Alpha 1-Antitrypsin Deficiency: A Review.

Published in:

American Journal of Gastroenterology (Springer Nature), 2008, v. 103, n. 8, p. 2136, doi. 10.1111/j.1572-0241.2008.01955.x

By:

Fairbanks, Kyrsten D.;
Tavill, Anthony S.

Publication type:

Article

Alpha[sub1]-Antitrypsin.

Published in:

Annals of Internal Medicine, 1976, v. 85, n. 1, p. 73, doi. 10.7326/0003-4819-85-1-73

By:

Freeman, H. J.;
Weinstein, W. M.;
Shnitka, T. K.;
Crockford, P. M.;
Herbert, F. A.

Publication type:

Article

Low incidence of alpha 1-antitrypsin deficiency among Filipinos with neonatal cholestatis.

Published in:

Journal of Paediatrics & Child Health, 2006, v. 42, n. 11, p. 694, doi. 10.1111/j.1440-1754.2006.00953.x

By:

Tan, Josephine J.;
Cutiongco-dela Paz, Eva Maria;
Avila, Jose Maria C.;
Gregorio, Germana V.

Publication type:

Article

The Natural History of Lung Function after Lung Transplantation for [alpha]1-Antitrypsin Deficiency.

Published in:

2014

By:

Banga, Amit;
Gildea, Thomas;
Rajeswaran, Jeevanantham;
Rokadia, Haala;
Blackstone, Eugene H;
Stoller, James K

Publication type:

Journal Article

Detection of emphysema progression in alpha 1-antitrypsin deficiency using CT densitometry; Methodological advances.

Published in:

Respiratory Research, 2008, v. 9, p. 1, doi. 10.1186/1465-9921-9-21

By:

Parr, David G.;
Sevenoaks, Martin;
ChunQin Deng;
Stoel, Berend C.;
Stockley, Robert A.

Publication type:

Article

Gene Replacement Therapy for Hereditary Emphysema?

Published in:

JAMA: Journal of the American Medical Association, 1989, v. 262, n. 18, p. 2499, doi. 10.1001/jama.1989.03430180017002

By:

Skolnick, Andrew

Publication type:

Article

Alpha 1-antitrypsin deficiency.

Published in:

Contemporary OB/GYN, 2002, v. 47, n. 2, p. 88

By:

Dhandha, Shama;
Hogge, Allen

Publication type:

Article

Smoking-Related Interstitial Fibrosis: Evidence of Radiologic Regression with Advancing Age and Smoking Cessation.

Published in:

COPD: Journal of Chronic Obstructive Pulmonary Disease, 2017, v. 14, n. 6, p. 603, doi. 10.1080/15412555.2017.1378631

By:

Fabre, Aurélie;
Treacy, Ann;
Lavelle, Lisa P;
Narski, Maciek;
Faheem, Nazia;
Healy, David;
Dodd, Jonathan D.;
Keane, Michael P.;
Egan, James J.;
Jebrak, Gilles;
Mal, Hervé;
Butler, Marcus W.

Publication type:

Article

Inhaled Alpha 1-Antitrypsin: Gauging Patient Interest in a New Treatment.

Published in:

COPD: Journal of Chronic Obstructive Pulmonary Disease, 2013, v. 10, n. 4, p. 411, doi. 10.3109/15412555.2012.758698

By:

Monk, Richard;
Graves, Michael;
Williams, Pamela;
Strange, Charlie

Publication type:

Article

Alpha 1-antitrypsin deficiency and asthma. The continuing search for the relationship.

Published in:

1997

By:

Pina JS;
Horan MP;
Pina, J S;
Horan, M P

Publication type:

journal article

Systemic modified messenger RNA for replacement therapy in alpha 1-antitrypsin deficiency.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-64017-0

By:

Karadagi, Ahmad;
Cavedon, Alex G.;
Zemack, Helen;
Nowak, Greg;
Eybye, Marianne E.;
Zhu, Xuling;
Guadagnin, Eleonora;
White, Rebecca A.;
Rice, Lisa M.;
Frassetto, Andrea L.;
Strom, Stephen;
Jorns, Carl;
Martini, Paolo G. V.;
Ellis, Ewa

Publication type:

Article

ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency.

Published in:

PLoS ONE, 2017, v. 12, n. 6, p. 1, doi. 10.1371/journal.pone.0179369

By:

Joly, Philippe;
Vignaud, Hélène;
Di Martino, Julie;
Ruiz, Mathias;
Garin, Roman;
Restier, Lioara;
Belmalih, Abdelouahed;
Marchal, Christelle;
Cullin, Christophe;
Arveiler, Benoit;
Fergelot, Patricia;
Gitler, Aaron D.;
Lachaux, Alain;
Couthouis, Julien;
Bouchecareilh, Marion

Publication type:

Article

Just Regular Chronic Obstructive Pulmonary Disease? If the History Doesn't Quite Match, Rethink Your Diagnosis.

Published in:

2019

By:

Hubbard, Nicole;
Wysozan, Timothy R.;
Zimmerman, Michelle K.

Publication type:

Case Study

The Autophagy Pathway: A Critical Route in the Disposal of Alpha 1-Antitrypsin Aggregates That Holds Many Mysteries.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 1875, doi. 10.3390/ijms22041875

By:

Leon, Celine;
Bouchecareilh, Marion;
Chazot, Paul

Publication type:

Article

A Novel Small Molecule Inhibits Intrahepatocellular Accumulation of Z-Variant Alpha 1-Antitrypsin In Vitro and In Vivo.

Published in:

Cells (2073-4409), 2019, v. 8, n. 12, p. 1586, doi. 10.3390/cells8121586

By:

Zhang, Xiaojuan;
Pham, Kien;
Li, Danmeng;
Schutte, Ryan J.;
Gonzalo, David Hernandez;
Zhang, Penghui;
Oshins, Regina;
Tan, Weihong;
Brantly, Mark;
Liu, Chen;
Ostrov, David A.

Publication type:

Article

Suppurative panniculitis associated with alpha 1-antitrypsin deficiency (PiSZ phenotype) treated with doxycycline.

Published in:

2001

By:

Chng, W.J.;
Henderson, C.A.

Publication type:

Case Study

Linkage Analysis of Alpha 1-Antitrypsin Deficiency: Lessons for Complex Diseases.

Published in:

Human Heredity, 2001, v. 52, n. 4, p. 223, doi. 10.1159/000053380

By:

Silverman, Edwin K.;
Mosley, Jonathan D.;
Rao, D.C.;
Palmer, Lyle J.;
Province, Michael A.;
Elston, Robert C.;
Weiss, Scott T.;
Campbell, Edward J.

Publication type:

Article

Discrimination between COPD patients with and without alpha 1-antitrypsin deficiency using an electronic nose.

Published in:

Respirology, 2011, v. 16, n. 8, p. 1258, doi. 10.1111/j.1440-1843.2011.02047.x

By:

HATTESOHL, AKIRA D.M.;
JÖRRES, RUDOLF A.;
DRESSEL, HOLGER;
SCHMID, SEVERIN;
VOGELMEIER, CLAUS;
GREULICH, TIMM;
NOESKE, SARAH;
BALS, ROBERT;
KOCZULLA, ANDREAS REMBERT

Publication type:

Article

Alpha-1 Antitrypsin Deficiency Screening Using Serum Protein Electrophoresis.

Published in:

Respiratory Care, 2025, v. 70, n. 5, p. 551, doi. 10.1089/respcare.12524

By:

Perales-Afán, Juan José;
Menao, Sebastián;
García-Gutiérrez, Almudena;
García-Zafra, Laura;
del Castillo-Díez, Enrique;
Torralba-Cabeza, Miguel Ángel

Publication type:

Article

'Unacceptable' Medical Deserts Leave Rural Patients With Rare Diseases Stranded.

Published in:

Healio Gastroenterology, 2025, v. 11, n. 4, p. 36

By:

Stonehill, Monica

Publication type:

Article

Raising Awareness of Alpha-1.

Published in:

RT: The Journal for Respiratory Care Practitioners, 2015, v. 28, n. 2, p. 24

By:

WOLSKI, C. A.

Publication type:

Article

Alpha-1 Antitrypsin Levels and Polymorphisms in Interstitial Lung Diseases.

Published in:

Turkish Journal of Medical Sciences, 2017, v. 47, n. 2, p. 476, doi. 10.3906/sag-1508-76

By:

DEMİR, Nalan;
DİKEN, Özlem ERÇEN;
KARABULUT, Halil Gürhan;
KARNAK, Demet;
KAYACAN, Oya

Publication type:

Article

Super‐selective intra‐arterial dissolution therapy for lingual artery occlusion resulting due to the use of hyaluronic acid for chin augmentation: The first reported case.

Published in:

Journal of Cosmetic Dermatology, 2022, v. 21, n. 8, p. 3358, doi. 10.1111/jocd.15093

By:

Yang, Yi;
Zhou, Guiwen;
Chen, Kang;
Fu, Qiang;
Lai, Linying;
Chen, Minliang

Publication type:

Article

Alpha-1 Antitrypsin PiMZ Genotype Is Associated with Chronic Obstructive Pulmonary Disease in Two Racial Groups.

Published in:

2017

By:

Foreman, Marilyn G.;
Wilson, Carla;
DeMeo, Dawn L.;
Hersh, Craig P.;
Beaty, Terri H.;
Cho, Michael H.;
Ziniti, John;
Curran-Everett, Douglas;
Criner, Gerard;
Hokanson, John E.;
Brantly, Mark;
Rouhani, Farshid N.;
Sandhaus, Robert A.;
Crapo, James D.;
Silverman, Edwin K.;
Genetic Epidemiology of COPD (COPDGene) Investigators *

Publication type:

journal article

Randomized, Placebo-Controlled Trials in Alpha-1 Antitrypsin Deficiency.

Published in:

2016

By:

Sandhaus, Robert A.

Publication type:

journal article

Alpha-1 Antitrypsin Investigations Using Animal Models of Emphysema.

Published in:

2016

By:

Ni, Kevin;
Serban, Karina A.;
Batra, Chanan;
Petrache, Irina

Publication type:

journal article