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Items: 1 to 20 of 101

1.

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

da Costa CH, Noronha Filho AJ, Marques E Silva RMF, da Cruz TF, de Oliveira Monteiro V, Pio M, Rufino RL.

BMC Res Notes. 2019 Jan 10;12(1):10. doi: 10.1186/s13104-018-4043-9.

2.

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

Russo R, Zillmer LR, Nascimento OA, Manzano B, Ivanaga IT, Fritscher L, Lundgren F, Miravitlles M, Gondim HD, Santos G Junior, Alves MA, Oliveira MV, Souza AA, Sales MP, Jardim JR.

J Bras Pneumol. 2016 Sep-Oct;42(5):311-316. doi: 10.1590/S1806-37562015000000180. English, Portuguese.

3.

Alpha-1 Antitrypsin Deficiency in COPD Patients: A Cross-Sectional Study.

Sorroche PB, Fernández Acquier M, López Jove O, Giugno E, Pace S, Livellara B, Legal S, Oyhamburu J, Saez MS.

Arch Bronconeumol. 2015 Nov;51(11):539-43. doi: 10.1016/j.arbres.2015.01.008. Epub 2015 Mar 21. English, Spanish.

4.

The prevalence of PI*S and PI*Z SERPINA1 alleles in healthy individuals and COPD patients in Saudi Arabia: A case-control study.

Al-Jameil N, Hassan AA, Hassanato R, Isac SR, Otaiby MA, Al-Shareef F, Al-Maarik B, Ajeyan IA, Al-Bahloul K, Ghani S, Al-Torbak D.

Medicine (Baltimore). 2017 Oct;96(42):e8320. doi: 10.1097/MD.0000000000008320.

5.

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

Foreman MG, Wilson C, DeMeo DL, Hersh CP, Beaty TH, Cho MH, Ziniti J, Curran-Everett D, Criner G, Hokanson JE, Brantly M, Rouhani FN, Sandhaus RA, Crapo JD, Silverman EK; Genetic Epidemiology of COPD (COPDGene) Investigators * .

Ann Am Thorac Soc. 2017 Aug;14(8):1280-1287. doi: 10.1513/AnnalsATS.201611-838OC.

6.

Is an integrative laboratory algorithm more effective in detecting alpha-1-antitrypsin deficiency in patients with premature chronic obstructive pulmonary disease than AAT concentration based screening approach?

Beletic A, Dudvarski-Ilic A, Milenkovic B, Nagorni-Obradovic L, Ljujic M, Djordjevic V, Mirkovic D, Radojkovic D, Majkic-Singh N.

Biochem Med (Zagreb). 2014;24(2):293-8. doi: 10.11613/BM.2014.032. Epub 2014 Jun 15.

7.

Frequency of Rare Alpha-1 Antitrypsin Variants in Polish Patients with Chronic Respiratory Disorders.

Duk K, Zdral A, Szumna B, Roży A, Chorostowska-Wynimko J.

Adv Exp Med Biol. 2016;910:47-53. doi: 10.1007/5584_2016_213.

PMID:
26987331
8.

Screening for alpha1-antitrypsin deficiency in Lithuanian patients with COPD.

Sitkauskiene B, Serapinas D, Blanco I, Fernández-Bustillo E, Janciauskiene S, Sakalauskas R.

Respir Med. 2008 Nov;102(11):1654-8. doi: 10.1016/j.rmed.2008.07.003. Epub 2008 Aug 21.

9.

Indications for active case searches and intravenous alpha-1 antitrypsin treatment for patients with alpha-1 antitrypsin deficiency chronic pulmonary obstructive disease: an update.

Casas F, Blanco I, Martínez MT, Bustamante A, Miravitlles M, Cadenas S, Hernández JM, Lázaro L, Rodríguez E, Rodríguez-Frías F, Torres M, Lara B.

Arch Bronconeumol. 2015 Apr;51(4):185-92. doi: 10.1016/j.arbres.2014.05.008. Epub 2014 Jul 12. English, Spanish.

10.

Identification of a novel SERPINA-1 mutation causing alpha-1 antitrypsin deficiency in a patient with severe bronchiectasis and pulmonary embolism.

Milger K, Holdt LM, Teupser D, Huber RM, Behr J, Kneidinger N.

Int J Chron Obstruct Pulmon Dis. 2015 May 7;10:891-7. doi: 10.2147/COPD.S80173. eCollection 2015.

11.

Sensitivity of alpha-1 antitrypsin level for inherited deficiency detection in COPD patients.

Serapinas D, Sakalauskas R.

Pneumologia. 2012 Jan-Mar;61(1):34-6.

PMID:
22545487
12.

A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and height.

North TL, Ben-Shlomo Y, Cooper C, Deary IJ, Gallacher J, Kivimaki M, Kumari M, Martin RM, Pattie A, Sayer AA, Starr JM, Wong A, Kuh D, Rodriguez S, Day IN.

J Med Genet. 2016 Apr;53(4):280-8. doi: 10.1136/jmedgenet-2015-103342. Epub 2016 Feb 1.

13.
14.

Novel variants of SERPIN1A gene: Interplay between alpha1-antitrypsin deficiency and chronic obstructive pulmonary disease.

Bashir A, Shah NN, Hazari YM, Habib M, Bashir S, Hilal N, Banday M, Asrafuzzaman S, Fazili KM.

Respir Med. 2016 Aug;117:139-49. doi: 10.1016/j.rmed.2016.06.005. Epub 2016 Jun 9. Review.

15.

Challenging identification of a novel PiISF and the rare PiMmaltonZ α1-antitrypsin deficiency variants in two patients.

Suh-Lailam BB, Procter M, Krautscheid P, Haas J, Kumar S, Mao R, Grenache DG.

Am J Clin Pathol. 2014 May;141(5):742-6. doi: 10.1309/AJCPR7EIQS8PIMLV.

PMID:
24713750
16.

Health status and lung function in the Swedish alpha 1-antitrypsin deficient cohort, identified by neonatal screening, at the age of 37-40 years.

Piitulainen E, Mostafavi B, Tanash HA.

Int J Chron Obstruct Pulmon Dis. 2017 Feb 2;12:495-500. doi: 10.2147/COPD.S120241. eCollection 2017.

17.

Rapid screening for alpha1-antitrypsin deficiency in patients with chronic obstructive pulmonary disease using dried blood specimens.

Rodriguez F, Jardí R, Costa X, Cotrina M, Galimany R, Vidal R, Miravitlles M.

Am J Respir Crit Care Med. 2002 Sep 15;166(6):814-7.

PMID:
12231490
18.

Sanger sequencing solved a cryptic case of severe alpha₁-antitrypsin deficiency.

Zhan SH, Abboud RT, Jung B, Kuchinka B, Ralston D, Casey B, Mattman A.

Clin Biochem. 2012 Apr;45(6):499-501. doi: 10.1016/j.clinbiochem.2012.01.027. Epub 2012 Feb 4.

PMID:
22330941
19.

The prevalence of alpha-1 antitrypsin deficiency among patients found to have airflow obstruction.

Rahaghi FF, Sandhaus RA, Brantly ML, Rouhani F, Campos MA, Strange C, Hogarth DK, Eden E, Stocks JM, Krowka MJ, Stoller JK.

COPD. 2012 Aug;9(4):352-8. doi: 10.3109/15412555.2012.669433. Epub 2012 Apr 16. Erratum in: COPD. 2013 Aug;10(4):555. Brantly, Mark L [added]; Rouhani, Farshid [added]; Campos, Michael A [added].

PMID:
22506682
20.

Real world evaluation of a novel lateral flow assay (AlphaKit® QuickScreen) for the detection of alpha-1-antitrypsin deficiency.

Greulich T, Rodríguez-Frias F, Belmonte I, Klemmer A, Vogelmeier CF, Miravitlles M.

Respir Res. 2018 Aug 13;19(1):151. doi: 10.1186/s12931-018-0826-8.

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