-
1
-
-
0141706635
-
American Thoracic Society/European Respiratory Society statement: Standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency
-
American Thoracic Society and European Respiratory Society
-
American Thoracic Society and European Respiratory Society. 2003. 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 168:818-900.
-
(2003)
Am J Respir Crit Care Med
, vol.168
, pp. 818-900
-
-
-
3
-
-
0023795389
-
Clinical features and history of the destructive lung disease associated with alpha-1-antitrypsin deficiency of adults with pulmonary symptoms
-
Brantly ML, Paul LD, Miller BH, Falk RT, Wu M, Crystal RG. 1988. Clinical features and history of the destructive lung disease associated with alpha-1-antitrypsin deficiency of adults with pulmonary symptoms. Am Rev Respir Dis 138:327-336.
-
(1988)
Am Rev Respir Dis
, vol.138
, pp. 327-336
-
-
Brantly, M.L.1
Paul, L.D.2
Miller, B.H.3
Falk, R.T.4
Wu, M.5
Crystal, R.G.6
-
4
-
-
18744382768
-
Advocating, the clinical way
-
Couzin J. 2005. Advocating, the clinical way. Science 308:940-942.
-
(2005)
Science
, vol.308
, pp. 940-942
-
-
Couzin, J.1
-
5
-
-
0036433482
-
Worldwide racial and ethnic distribution of alpha-1-antitrypsin deficiency: Summary of an analysis of published genetic epidemiologic surveys
-
de Serres FJ. 2002. Worldwide racial and ethnic distribution of alpha-1-antitrypsin deficiency: Summary of an analysis of published genetic epidemiologic surveys. Chest 122:1818-1829.
-
(2002)
Chest
, vol.122
, pp. 1818-1829
-
-
de Serres, F.J.1
-
7
-
-
0037952677
-
Cost-effectiveness analysis of augmentation therapy for severe alpha-1 antitrypsin deficiency
-
Gildea TR, Shermock KM, Singer ME, Stoller JK. 2003. Cost-effectiveness analysis of augmentation therapy for severe alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med 167:1387-1392.
-
(2003)
Am J Respir Crit Care Med
, vol.167
, pp. 1387-1392
-
-
Gildea, T.R.1
Shermock, K.M.2
Singer, M.E.3
Stoller, J.K.4
-
8
-
-
0025890293
-
Cost-effectiveness of alpha-1 antitrypsin replacement therapy in treatment of congenital chronic obstructive pulmonary disease
-
Hay JW, Robin ED. 1991. Cost-effectiveness of alpha-1 antitrypsin replacement therapy in treatment of congenital chronic obstructive pulmonary disease. Am J Public Health 81:427-433.
-
(1991)
Am J Public Health
, vol.81
, pp. 427-433
-
-
Hay, J.W.1
Robin, E.D.2
-
10
-
-
0025815961
-
Alpha 1-antitrypsin deficiency and liver disease: Clinical presentation, diagnosis and treatment
-
Hussain M, Mieli-Vergani G, Mowat AP. 1991. Alpha 1-antitrypsin deficiency and liver disease: Clinical presentation, diagnosis and treatment. J Inherit Metab Dis 14:497-511.
-
(1991)
J Inherit Metab Dis
, vol.14
, pp. 497-511
-
-
Hussain, M.1
Mieli-Vergani, G.2
Mowat, A.P.3
-
11
-
-
84907041622
-
The electrophoretic alpha 1-globulin pattern of serum in alpha 1-antitrypsin deficiency
-
Laurell C-B, Eriksson A. 1963. The electrophoretic alpha 1-globulin pattern of serum in alpha 1-antitrypsin deficiency. Scand J Clin Lab Invest 15:132-140.
-
(1963)
Scand J Clin Lab Invest
, vol.15
, pp. 132-140
-
-
Laurell, C.-B.1
Eriksson, A.2
-
12
-
-
0041821366
-
Participation by clinical geneticists in genetic advocacy groups
-
Lin AE, Terry SF, Lerner B, Anderson R, Irons M. 2003. Participation by clinical geneticists in genetic advocacy groups. Am J Med Genet Part A 119A:89-92.
-
(2003)
Am J Med Genet
, vol.119 A
, Issue.PART A
, pp. 89-92
-
-
Lin, A.E.1
Terry, S.F.2
Lerner, B.3
Anderson, R.4
Irons, M.5
-
13
-
-
0141558799
-
Major components of the direct medical costs of alpha-1-antitrypsin deficiency
-
Mullins CD, Wang J, Stoller JK. 2003. Major components of the direct medical costs of alpha-1-antitrypsin deficiency. Chest 124:826-831.
-
(2003)
Chest
, vol.124
, pp. 826-831
-
-
Mullins, C.D.1
Wang, J.2
Stoller, J.K.3
-
14
-
-
0017902246
-
Neonatal screening for alpha 1-antitrypsin deficiency
-
O'Brien ML, Buist NR, Murphey WH. 1978. Neonatal screening for alpha 1-antitrypsin deficiency. J Pediatr 92:1006-1010.
-
(1978)
J Pediatr
, vol.92
, pp. 1006-1010
-
-
O'Brien, M.L.1
Buist, N.R.2
Murphey, W.H.3
-
15
-
-
34248642305
-
Molecular pathogenesis of alpha-1-antitrypsin-deficiency-associated liver disease: A meeting report
-
Perlmutter DH, Brodsky JL, Balistreri WF, Trapnell BG. 2007. Molecular pathogenesis of alpha-1-antitrypsin-deficiency-associated liver disease: A meeting report. Hepatology 45:1313-1323.
-
(2007)
Hepatology
, vol.45
, pp. 1313-1323
-
-
Perlmutter, D.H.1
Brodsky, J.L.2
Balistreri, W.F.3
Trapnell, B.G.4
-
16
-
-
0242708812
-
Environmental, occupational, and genetic risk factors for alpha-1 antitrypsin deficiency
-
Sharp RR, de Serres F, Newman L, Sandhaus RA, Walsh JW, Hood E, Harry GJ. 2003. Environmental, occupational, and genetic risk factors for alpha-1 antitrypsin deficiency. Environ Health Perspect 111:1749-1752.
-
(2003)
Environ Health Perspect
, vol.111
, pp. 1749-1752
-
-
Sharp, R.R.1
de Serres, F.2
Newman, L.3
Sandhaus, R.A.4
Walsh, J.W.5
Hood, E.6
Harry, G.J.7
-
17
-
-
20744450475
-
Alpha-1 antitrypsin deficiency
-
Stoller JK, Aboussouan LS. 2005. Alpha-1 antitrypsin deficiency. Lancet 365:2225-2236.
-
(2005)
Lancet
, vol.365
, pp. 2225-2236
-
-
Stoller, J.K.1
Aboussouan, L.S.2
-
18
-
-
0028543862
-
Physical and social impact of alpha 1-antitrypsin deficiency: Results of a survey
-
Stoller JK, Smith P, Yang P, Spray J. 1994. Physical and social impact of alpha 1-antitrypsin deficiency: Results of a survey. Cleve Clin J Med 61:461-467.
-
(1994)
Cleve Clin J Med
, vol.61
, pp. 461-467
-
-
Stoller, J.K.1
Smith, P.2
Yang, P.3
Spray, J.4
-
19
-
-
0033796561
-
Formation and current results of a patient-organized registry for alpha-1 antitrypsin deficiency
-
Stoller JK, Brantly M, Fleming LE, Bean J, Walsh J. 2000. Formation and current results of a patient-organized registry for alpha-1 antitrypsin deficiency. Chest 118:843-848.
-
(2000)
Chest
, vol.118
, pp. 843-848
-
-
Stoller, J.K.1
Brantly, M.2
Fleming, L.E.3
Bean, J.4
Walsh, J.5
-
20
-
-
27144471656
-
Delay in diagnosis of alpha-1-antitrypsin deficiency: A continuing problem
-
Stoller JK, Sandhaus RA, Turino G, Dickson R, Rodgers K, Strange C. 2005. Delay in diagnosis of alpha-1-antitrypsin deficiency: A continuing problem. Chest 128:1989-1994.
-
(2005)
Chest
, vol.128
, pp. 1989-1994
-
-
Stoller, J.K.1
Sandhaus, R.A.2
Turino, G.3
Dickson, R.4
Rodgers, K.5
Strange, C.6
-
21
-
-
3442875361
-
Genetic testing for alpha-1-antitrypsin deficiency
-
Strange C, Dickson R, Carter C, Carpenter MJ, Holladay B, Lundquist R, Brantly ML. 2004. Genetic testing for alpha-1-antitrypsin deficiency. Genet Med 6:204-210.
-
(2004)
Genet Med
, vol.6
, pp. 204-210
-
-
Strange, C.1
Dickson, R.2
Carter, C.3
Carpenter, M.J.4
Holladay, B.5
Lundquist, R.6
Brantly, M.L.7
-
22
-
-
33645223500
-
Results of a survey of patients with alpha-1 antitrypsin deficiency
-
Strange C, Stoller JK, Sandhaus RA, Dickson R, Turino G. 2006. Results of a survey of patients with alpha-1 antitrypsin deficiency. Respiration 73:185-190.
-
(2006)
Respiration
, vol.73
, pp. 185-190
-
-
Strange, C.1
Stoller, J.K.2
Sandhaus, R.A.3
Dickson, R.4
Turino, G.5
-
23
-
-
33645079400
-
Alpha-1-antitrypsin deficiency: Diagnosis, pathophysiology, and management
-
Teckman JH, Lindblad D. 2006. Alpha-1-antitrypsin deficiency: Diagnosis, pathophysiology, and management. Curr Gastroenterol Rep 8:14-20.
-
(2006)
Curr Gastroenterol Rep
, vol.8
, pp. 14-20
-
-
Teckman, J.H.1
Lindblad, D.2
-
24
-
-
85170337916
-
PXE International: Harnessing intellectual property law for benefit-sharing
-
Knoppers BM, editor, Leiden: Martinus Nijhoff Publishers. p
-
Terry PF. 2003. PXE International: Harnessing intellectual property law for benefit-sharing. In: Knoppers BM, editor. Populations and genetics: Legal and socio-ethical perspectives. Leiden: Martinus Nijhoff Publishers. p 377-393.
-
(2003)
Populations and genetics: Legal and socio-ethical perspectives
, pp. 377-393
-
-
Terry, P.F.1
-
25
-
-
0034770350
-
Researching the biology of PXE: Partnering in the process
-
Terry SF, Boyd CD. 2001. Researching the biology of PXE: Partnering in the process. Am J Med Genet 106:177-184.
-
(2001)
Am J Med Genet
, vol.106
, pp. 177-184
-
-
Terry, S.F.1
Boyd, C.D.2
-
26
-
-
0034449776
-
Empowering the public to be informed consumers of genetic technologies and services
-
Terry SF, Davidson ME. 2000. Empowering the public to be informed consumers of genetic technologies and services. Community Genet 3:148-150.
-
(2000)
Community Genet
, vol.3
, pp. 148-150
-
-
Terry, S.F.1
Davidson, M.E.2
-
27
-
-
33846296952
-
Advocacy groups as research organizations: The PXE International example
-
Terry SF, Terry PF, Rauen KA, Uitto J, Bercovitch LG. 2007. Advocacy groups as research organizations: The PXE International example. Nat Rev Genet 8:157-164.
-
(2007)
Nat Rev Genet
, vol.8
, pp. 157-164
-
-
Terry, S.F.1
Terry, P.F.2
Rauen, K.A.3
Uitto, J.4
Bercovitch, L.G.5
-
28
-
-
10944232402
-
The bronchopulmonary pathology of alpha-1 antitrypsin (AAT) deficiency: Findings of the death review committee of the national registry for individuals with severe deficiency of alpha-1 antitrypsin
-
Tomashefski JF Jr, Crystal RG, Wiedemann HP, Mascha E, Stoller JK. 2004. The bronchopulmonary pathology of alpha-1 antitrypsin (AAT) deficiency: Findings of the death review committee of the national registry for individuals with severe deficiency of alpha-1 antitrypsin. Hum Pathol 35:1452-1461.
-
(2004)
Hum Pathol
, vol.35
, pp. 1452-1461
-
-
Tomashefski Jr, J.F.1
Crystal, R.G.2
Wiedemann, H.P.3
Mascha, E.4
Stoller, J.K.5
-
29
-
-
0030446288
-
Clinical features of individuals with PI*SZ phenotype of alpha 1-antitrypsin deficiency
-
Turino GM, Barker AF, Brantly ML, Cohen AB, Connelly RP, Crystal RG, Eden E, Schluchter MD, Stoller JK. 1996. Clinical features of individuals with PI*SZ phenotype of alpha 1-antitrypsin deficiency. Am J Respir Crit Care Med 154:1718-1725.
-
(1996)
Am J Respir Crit Care Med
, vol.154
, pp. 1718-1725
-
-
Turino, G.M.1
Barker, A.F.2
Brantly, M.L.3
Cohen, A.B.4
Connelly, R.P.5
Crystal, R.G.6
Eden, E.7
Schluchter, M.D.8
Stoller, J.K.9
-
30
-
-
33750108670
-
A review of the Alpha-1 Foundation: Its formation, impact, and critical success factors
-
Walsh JW, Snider GL, Stoller JK. 2006. A review of the Alpha-1 Foundation: Its formation, impact, and critical success factors. Respir Care 51:526-531.
-
(2006)
Respir Care
, vol.51
, pp. 526-531
-
-
Walsh, J.W.1
Snider, G.L.2
Stoller, J.K.3
-
31
-
-
33745172773
-
A journey of hope: Lessons learned from studies on rare diseases and orphan drugs
-
Wästfelt M, Fadeel B, Henter JI. 2006. A journey of hope: Lessons learned from studies on rare diseases and orphan drugs. J Intern Med 260:1-10.
-
(2006)
J Intern Med
, vol.260
, pp. 1-10
-
-
Wästfelt, M.1
Fadeel, B.2
Henter, J.I.3
-
33
-
-
2642680855
-
Alpha-1-antitrypsin deficiency: Memorandum from a WHO meeting
-
World Health Organisation
-
World Health Organisation. 1997. Alpha-1-antitrypsin deficiency: Memorandum from a WHO meeting. Bull World Health Organ 75:397-415.
-
(1997)
Bull World Health Organ
, vol.75
, pp. 397-415
-
-
-
34
-
-
33947384955
-
Bioethics consultation and patient advocacy organizations: Expanding the dialogue about professional conflicts of interest
-
Yarborough M, Sharp RR. 2006. Bioethics consultation and patient advocacy organizations: Expanding the dialogue about professional conflicts of interest. Camb Q Healthc Ethics 16:74-81.
-
(2006)
Camb Q Healthc Ethics
, vol.16
, pp. 74-81
-
-
Yarborough, M.1
Sharp, R.R.2
|