-
2
-
-
20744450475
-
Alpha1-antitrypsin deficiency
-
Stoller JK, Aboussouan LS. Alpha1-antitrypsin deficiency. Lancet. 2005;365:2225-2236.
-
(2005)
Lancet.
, vol.365
, pp. 2225-2236
-
-
Stoller, J.K.1
Aboussouan, L.S.2
-
3
-
-
2442621622
-
Alpha 1-antitrypsin deficiency, 3: Clinical manifestations and natural history
-
Needham M, Stockley RA. Alpha 1-antitrypsin deficiency, 3: Clinical manifestations and natural history. Thorax. 2004;59:441-445.
-
(2004)
Thorax.
, vol.59
, pp. 441-445
-
-
Needham, M.1
Stockley, R.A.2
-
4
-
-
4744356921
-
Alpha-1-antitrypsin deficiency: Diagnosis and treatment
-
viii-ix
-
Perlmutter DH. Alpha-1-antitrypsin deficiency: Diagnosis and treatment. Clin Liver Dis. 2004;8:839-859, viii-ix.
-
(2004)
Clin Liver Dis.
, vol.8
, pp. 839-859
-
-
Perlmutter, D.H.1
-
5
-
-
0141706635
-
American Thoracic Society/European Respiratory Society statement: Standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency
-
American Thoracic Society/European Respiratory Society statement: Standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 2003;168:818-900.
-
(2003)
Am J Respir Crit Care Med.
, vol.168
, pp. 818-900
-
-
-
6
-
-
38949210332
-
Primary care diagnosis of alpha-1 antitrypsin deficiency: Issues and opportunities
-
Stoller JK, Fromer L, Brantly M, et al. Primary care diagnosis of alpha-1 antitrypsin deficiency: Issues and opportunities. Cleve Clin J Med. 2007;74:869-874.
-
(2007)
Cleve Clin J Med.
, vol.74
, pp. 869-874
-
-
Stoller, J.K.1
Fromer, L.2
Brantly, M.3
-
7
-
-
0348013043
-
Alpha-1 antitrypsin deficiency is not a rare disease but a disease that is rarely diagnosed
-
de Serres FJ. Alpha-1 antitrypsin deficiency is not a rare disease but a disease that is rarely diagnosed. Environ Health Perspect. 2003;111:1851-1854.
-
(2003)
Environ Health Perspect.
, vol.111
, pp. 1851-1854
-
-
De Serres, F.J.1
-
8
-
-
27144471656
-
Delay in diagnosis of alpha1-antitrypsin deficiency: A continuing problem
-
Stoller JK, Sandhaus RA, Turino G, et al. Delay in diagnosis of alpha1-antitrypsin deficiency: A continuing problem. Chest. 2005;128:1989-1994.
-
(2005)
Chest.
, vol.128
, pp. 1989-1994
-
-
Stoller, J.K.1
Sandhaus, R.A.2
Turino, G.3
-
9
-
-
0028543862
-
Physical and social impact of alpha 1-antitrypsin deficiency: Results of a survey
-
Stoller JK, Smith P, Yang P, et al. Physical and social impact of alpha 1-antitrypsin deficiency: Results of a survey. Cleve Clin J Med. 1994;61:461-467.
-
(1994)
Cleve Clin J Med.
, vol.61
, pp. 461-467
-
-
Stoller, J.K.1
Smith, P.2
Yang, P.3
-
10
-
-
0036433482
-
Worldwide racial and ethnic distribution of alpha1-antitrypsin deficiency: Summary of an analysis of published genetic epidemiologic surveys
-
de Serres FJ. Worldwide racial and ethnic distribution of alpha1-antitrypsin deficiency: Summary of an analysis of published genetic epidemiologic surveys. Chest. 2002;122:1818-1829.
-
(2002)
Chest.
, vol.122
, pp. 1818-1829
-
-
De Serres, F.J.1
-
11
-
-
33646375709
-
Validation of a rapid simple method to measure alpha1-antitrypsin in human dried blood spots
-
Gorrini M, Ferrarotti I, Lupi A, et al. Validation of a rapid, simple method to measure alpha1-antitrypsin in human dried blood spots. Clin Chem. 2006;52:899-901.
-
(2006)
Clin Chem.
, vol.52
, pp. 899-901
-
-
Gorrini, M.1
Ferrarotti, I.2
Lupi, A.3
-
12
-
-
0032857973
-
High-speed detection of the two common alpha(1)-antitrypsin deficiency alleles Pi*Z and Pi*S by real-time fluorescence PCR and melting curves
-
Aslanidis C, Nauck M, Schmitz G. High-speed detection of the two common alpha(1)-antitrypsin deficiency alleles Pi*Z and Pi*S by real-time fluorescence PCR and melting curves. Clin Chem. 1999;45:1872-1875.
-
(1999)
Clin Chem.
, vol.45
, pp. 1872-1875
-
-
Aslanidis, C.1
Nauck, M.2
Schmitz, G.3
-
13
-
-
79961077747
-
Simultaneous phenotyping and quantification of alpha-1-antitrypsin by liquid chromatography-tandem mass spectrometry
-
Chen Y, Snyder MR, Zhu Y, et al. Simultaneous phenotyping and quantification of alpha-1-antitrypsin by liquid chromatography-tandem mass spectrometry. Clin Chem. 2011;57:1161-1168.
-
(2011)
Clin Chem.
, vol.57
, pp. 1161-1168
-
-
Chen, Y.1
Snyder, M.R.2
Zhu, Y.3
-
14
-
-
0037104966
-
Rapid screening for alpha1-antitrypsin deficiency in patients with chronic obstructive pulmonary disease using dried blood specimens
-
Rodriguez F, Jardi R, Costa X, et al. Rapid screening for alpha1-antitrypsin deficiency in patients with chronic obstructive pulmonary disease using dried blood specimens. Am J Respir Crit Care Med. 2002;166:814-817.
-
(2002)
Am J Respir Crit Care Med.
, vol.166
, pp. 814-817
-
-
Rodriguez, F.1
Jardi, R.2
Costa, X.3
-
15
-
-
84875970525
-
Alpha 1-antitrypsin phenotypes and associated serum protein concentrations in a large clinical population
-
[published online September 24,] doi:10.1378/chest.12-0564
-
Bornhorst JA, Greene DN, Ashwood ER, et al. Alpha 1-antitrypsin phenotypes and associated serum protein concentrations in a large clinical population [published online September 24, 2012]. Chest. doi:10.1378/chest.12- 0564.
-
(2012)
Chest.
-
-
Bornhorst, J.A.1
Greene, D.N.2
Ashwood, E.R.3
-
16
-
-
84865405406
-
Reference and interpretive ranges for alpha1-antitrypsin quantitation by phenotype in adult and pediatric populations
-
Donato LJ, Jenkins SM, Smith C, et al. Reference and interpretive ranges for alpha1-antitrypsin quantitation by phenotype in adult and pediatric populations. Am J Clin Pathol. 2012;138:398-405.
-
(2012)
Am J Clin Pathol.
, vol.138
, pp. 398-405
-
-
Donato, L.J.1
Jenkins, S.M.2
Smith, C.3
-
17
-
-
33845536840
-
Diagnosis of alpha-1-antitrypsin deficiency: An algorithm of quantification, genotyping, and phenotyping
-
Snyder MR, Katzmann JA, Butz ML, et al. Diagnosis of alpha-1-antitrypsin deficiency: An algorithm of quantification, genotyping, and phenotyping. Clin Chem. 2006;52:2236-2242.
-
(2006)
Clin Chem.
, vol.52
, pp. 2236-2242
-
-
Snyder, M.R.1
Katzmann, J.A.2
Butz, M.L.3
-
18
-
-
34748900792
-
Evaluation of an integrative diagnostic algorithm for the identification of people at risk for alpha1-antitrypsin deficiency
-
Bornhorst JA, Procter M, Meadows C, et al. Evaluation of an integrative diagnostic algorithm for the identification of people at risk for alpha1-antitrypsin deficiency. Am J Clin Pathol. 2007;128:482-490.
-
(2007)
Am J Clin Pathol.
, vol.128
, pp. 482-490
-
-
Bornhorst, J.A.1
Procter, M.2
Meadows, C.3
-
19
-
-
0018911401
-
PiZpratt: A new alpha 1-antitrypsin allele in an American Negro family
-
Hug G, Chuck G, Bowles B, et al. PiZpratt: A new alpha 1-antitrypsin allele in an American Negro family. Hum Genet. 1980;56:107-110.
-
(1980)
Hum Genet.
, vol.56
, pp. 107-110
-
-
Hug, G.1
Chuck, G.2
Bowles, B.3
-
20
-
-
0024820821
-
Molecular characterisation of three alpha-1-antitrypsin deficiency variants: Proteinase inhibitor (Pi) nullcardiff (Asp256-Val); PiMmalton (Phe51-deletion) and PiI (Arg39-?-Cys)
-
Graham A, Kalsheker NA, Newton CR, et al. Molecular characterisation of three alpha-1-antitrypsin deficiency variants: Proteinase inhibitor (Pi) nullcardiff (Asp256-Val); PiMmalton (Phe51-deletion) and PiI (Arg39-?-Cys). Hum Genet. 1989;84:55-58.
-
(1989)
Hum Genet.
, vol.84
, pp. 55-58
-
-
Graham, A.1
Kalsheker, N.A.2
Newton, C.R.3
-
21
-
-
0030424555
-
Kinetic characterisation of alpha-1-antitrypsin F as an inhibitor of human neutrophil elastase
-
Cook L, Burdon JG, Brenton S, et al. Kinetic characterisation of alpha-1-antitrypsin F as an inhibitor of human neutrophil elastase. Pathology. 1996;28:242-247.
-
(1996)
Pathology.
, vol.28
, pp. 242-247
-
-
Cook, L.1
Burdon, J.G.2
Brenton, S.3
-
22
-
-
35348944463
-
Genotypes and serum concentrations of human alpha-1-antitrypsin "P" protein variants in a clinical population
-
Bornhorst JA, Calderon FR, Procter M, et al. Genotypes and serum concentrations of human alpha-1-antitrypsin "P" protein variants in a clinical population. J Clin Pathol. 2007;60:1124-1128.
-
(2007)
J Clin Pathol.
, vol.60
, pp. 1124-1128
-
-
Bornhorst, J.A.1
Calderon, F.R.2
Procter, M.3
-
23
-
-
0021743897
-
Silver-stained phenotyping of alpha 1-antitrypsin in dried blood and serum specimens
-
Massi G, Marano G, Patalano F, et al. Silver-stained phenotyping of alpha 1-antitrypsin in dried blood and serum specimens. Clin Chem. 1984;30:1674-1676.
-
(1984)
Clin Chem.
, vol.30
, pp. 1674-1676
-
-
Massi, G.1
Marano, G.2
Patalano, F.3
-
24
-
-
43349089536
-
Evaluation of a new Sebia isoelectrofocusing kit for alpha 1-antitrypsin phenotyping with the Hydrasys System
-
Zerimech F, Hennache G, Bellon F, et al. Evaluation of a new Sebia isoelectrofocusing kit for alpha 1-antitrypsin phenotyping with the Hydrasys System. Clin Chem Lab Med. 2008;46:260-263.
-
(2008)
Clin Chem Lab Med.
, vol.46
, pp. 260-263
-
-
Zerimech, F.1
Hennache, G.2
Bellon, F.3
-
25
-
-
84855429918
-
Alpha1-antitrypsin deficiency in fraternal twins born with familial spontaneous pneumothorax
-
Greene DN, Procter M, Krautscheid P, et al. Alpha1-antitrypsin deficiency in fraternal twins born with familial spontaneous pneumothorax. Chest. 2012;141:239-241.
-
(2012)
Chest.
, vol.141
, pp. 239-241
-
-
Greene, D.N.1
Procter, M.2
Krautscheid, P.3
-
26
-
-
79956292638
-
Misclassification of an apparent alpha 1-antitrypsin "Z" deficiency variant by melting analysis
-
Greene DN, Procter M, Grenache DG, et al. Misclassification of an apparent alpha 1-antitrypsin "Z" deficiency variant by melting analysis. Clin Chim Acta. 2011;412:1454-1456.
-
(2011)
Clin Chim Acta.
, vol.412
, pp. 1454-1456
-
-
Greene, D.N.1
Procter, M.2
Grenache, D.G.3
-
27
-
-
0014345394
-
Principles and practice of mass screening for disease [in Spanish]
-
Wilson JM, Jungner YG. Principles and practice of mass screening for disease [in Spanish]. Bol Oficina Sanit Panam. 1968;65:281-393.
-
(1968)
Bol Oficina Sanit Panam.
, vol.65
, pp. 281-393
-
-
Wilson, J.M.1
Jungner, Y.G.2
-
28
-
-
33645223500
-
Results of a survey of patients with alpha-1 antitrypsin deficiency
-
Strange C, Stoller JK, Sandhaus RA, et al. Results of a survey of patients with alpha-1 antitrypsin deficiency. Respiration. 2006;73:185-190.
-
(2006)
Respiration.
, vol.73
, pp. 185-190
-
-
Strange, C.1
Stoller, J.K.2
Sandhaus, R.A.3
-
29
-
-
84867502602
-
Rapid DNA extraction protocol for detection of alpha-1 antitrypsin deficiency from dried blood spots by real-time PCR
-
Struniawski R, Szpechcinski A, Poplawska B, et al. Rapid DNA extraction protocol for detection of alpha-1 antitrypsin deficiency from dried blood spots by real-time PCR. Adv Exp Med Biol. 2013;756:29-37.
-
(2013)
Adv Exp Med Biol.
, vol.756
, pp. 29-37
-
-
Struniawski, R.1
Szpechcinski, A.2
Poplawska, B.3
-
30
-
-
84878065966
-
-
Grifols Therapeutics, Free Grifols AlphaKit. Accessed September 2012
-
Grifols Therapeutics. Free Grifols AlphaKit. http://www. prolastin.com/html/patient-get-tested-order.htm. Accessed September 2012.
-
-
-
|