-
1
-
-
0033585476
-
Prevalence of lysosomal storage disorders
-
DOI 10.1001/jama.281.3.249
-
Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. J Am Med Assoc 1999;281:249-54. (Pubitemid 29058114)
-
(1999)
Journal of the American Medical Association
, vol.281
, Issue.3
, pp. 249-254
-
-
Meikle, P.J.1
Hopwood, J.J.2
Clague, A.E.3
Carey, W.F.4
-
2
-
-
0034858608
-
Inborn errors of metabolism at the turn of the millennium
-
Baric I, Fumic K, Hoffmann GF. Inborn errors of metabolism at the turn of the millennium. Croat Med J 2001;42:379-83. (Pubitemid 32781444)
-
(2001)
Croatian Medical Journal
, vol.42
, Issue.4
, pp. 379-383
-
-
Baric, I.1
Fumic, K.2
Hoffmann, G.F.3
-
3
-
-
0000726723
-
Beta-galactosidase deficiency (beta-galactosidosis): GM1 gangliosidosis and Morquio B disease
-
In Scriver CR, Beaudet AL, Sly WS, Valle D, editorsC New York:
-
Suzuki Y, Oshima A, Nanba E. Beta-galactosidase deficiency (beta-galactosidosis): GM1 gangliosidosis and Morquio B disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, 2001:3775-809.
-
(2011)
The Metabolic and Molecular Bases Of Inherited Disease
, pp. 3775-809
-
-
Suzuki, Y.1
Oshima, A.2
Nanba, E.3
-
4
-
-
33749151183
-
Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: Possible common origin for the prevalent p.R59H mutation among gypsies
-
Santamaria R, Chabás A, Coll MJ, Miranda CS, Vilageliu L, Grinberg D. Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: Possible common origin for the prevalent p.R59H mutation among gypsies. Hum Mut 2006;27:1060.
-
(2006)
Hum Mut
, vol.27
, pp. 1060
-
-
Santamaria, R.1
Chabás, A.2
Coll, M.J.3
Miranda, C.S.4
Vilageliu, L.5
Grinberg, D.6
-
5
-
-
0033152727
-
Sphingolipids - Their metabolic pathways and the pathobiochemistry of neurodegenerative diseases
-
DOI 10.1002/(SICI)1521-3773(19990601)38: 11<1532::AID-ANIE1532>3.0. CO;2-U
-
Kolter T, Sandhoff K. Sphingolipids -their metabolic pathways and the pathobiochemistry of neurodegenerative diseases. Angew Chem Int Ed Engl 1999;38:1532-68. (Pubitemid 29288756)
-
(1999)
Angewandte Chemie - International Edition
, vol.38
, Issue.11
, pp. 1532-1568
-
-
Kolter, T.1
Sandhoff, K.2
-
7
-
-
47049111307
-
Evaluation of the human immunodeficiency virus type 1 and 2 antibodies detection in dried whole blood spots (DBS) samples
-
DOI 10.1590/S0036-46652008000300004
-
Castro AC, Borges LG, Souza Rda S, Grudzinski M, D'Azevedo PA. Evaluation of the human immunodeficiency virus type 1 and 2 antibodies detection in dried whole blood spots (DBS) samples. Rev Inst Med Trop Sao Paulo 2008;50:151-6. (Pubitemid 351968855)
-
(2008)
Revista do Instituto de Medicina Tropical de Sao Paulo
, vol.50
, Issue.3
, pp. 151-156
-
-
De Castro, A.C.1
Borges, L.G.D.A.2
De Souza, R.D.S.3
Grudzinski, M.4
D'Azevedo, P.A.5
-
8
-
-
64849084763
-
Effect of sample collection on alpha-galactosidase A enzyme activity measurements in dried blood spots on filter paper
-
Olivova P, van der Veen K, Cullen E, Rose M, Zhang XK, Sims KB, et al. Effect of sample collection on alpha-galactosidase A enzyme activity measurements in dried blood spots on filter paper. Clin Chim Acta 2009;403:159-62.
-
(2009)
Clin Chim Acta
, vol.403
, pp. 159-62
-
-
Olivova, P.1
Van Der Veen, K.2
Cullen, E.3
Rose, M.4
Zhang, X.K.5
Sims, K.B.6
-
9
-
-
33747815417
-
Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases
-
DOI 10.1016/j.cca.2006.03.029, PII S0009898106002191
-
Civallero G, Michelin K, de Mari J, Viapiana M, Burin M, Coelho JC, et al. Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases. Clin Chim Acta 2006;372:98-102. (Pubitemid 44286767)
-
(2006)
Clinica Chimica Acta
, vol.372
, Issue.1-2
, pp. 98-102
-
-
Civallero, G.1
Michelin, K.2
De Mari, J.3
Viapiana, M.4
Burin, M.5
Coelho, J.C.6
Giugliani, R.7
-
10
-
-
67650266250
-
Chitotriosidase determination in plasma and in dried blood spots: A comparison using two different substrates in a microplate assay
-
Rodrigues MD, Oliveira AC, Müller KB, Martins AM, D'Almeida V. Chitotriosidase determination in plasma and in dried blood spots: A comparison using two different substrates in a microplate assay. Clin Chim Acta 2009;406:86-8.
-
(2009)
Clin Chim Acta
, vol.406
, pp. 86-8
-
-
Rodrigues, M.D.1
Oliveira, A.C.2
Müller, K.B.3
Martins, A.M.4
D'Almeida, V.5
-
11
-
-
4143095952
-
Glycogen storage disease type II: Enzymatic screening in dried blood spots on filter paper
-
DOI 10.1016/j.cccn.2004.04.009, PII S0009898104002104
-
Chamoles NA, Niizawa G, Blanco M, Gaggioli D, Casentini C. Glycogen storage disease type II: Enzymatic screening in dried blood spots on filter paper. Clin Chim Acta 2004;347: 97-102. (Pubitemid 39099610)
-
(2004)
Clinica Chimica Acta
, vol.347
, Issue.1-2
, pp. 97-102
-
-
Chamoles, N.A.1
Niizawa, G.2
Blanco, M.3
Gaggioli, D.4
Casentini, C.5
-
12
-
-
0036155174
-
Gaucher and Niemann-Pick diseases - Enzymatic diagnosis in dried blood spots on filter paper: Retrospective diagnoses in newborn-screening cards
-
DOI 10.1016/S0009-8981(01)00798-7, PII S0009898101007987
-
Chamoles NA, Blanco M, Gaggioli D, Casentini C. Gaucher and Niemann-Pick diseases -enzymatic diagnosis in dried blood spots on filter paper: Retrospective diagnoses in newbornscreening cards. Clin Chim Acta 2002;317:191-7. (Pubitemid 34114035)
-
(2002)
Clinica Chimica Acta
, vol.317
, Issue.1-2
, pp. 191-197
-
-
Chamoles, N.A.1
Blanco, M.2
Gaggioli, D.3
Casentini, C.4
-
13
-
-
0034970245
-
Fabry disease: Enzymatic diagnosis in dried blood spots on filter paper [4]
-
DOI 10.1016/S0009-8981(01)00478-8, PII S0009898101004788
-
Chamoles NA, Blanco M, Gaggioli D. Fabry disease: Enzymatic diagnosis in dried blood spots on filter paper. Clin Chim Acta 2001;308:195-6. (Pubitemid 32537628)
-
(2001)
Clinica Chimica Acta
, vol.308
, Issue.1-2
, pp. 195-196
-
-
Chamoles, N.A.1
Blanco, M.2
Gaggioli, D.3
-
14
-
-
77649231614
-
Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes -possibility for newborn screening
-
Lukacs Z, Cobos PN, Mengel E, Hartung R, Beck M, Deschauer M, et al. Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes -possibility for newborn screening. J Inherit Metab Dis 2010;33:43-50.
-
(2010)
J Inherit Metab Dis
, vol.33
, pp. 43-50
-
-
Lukacs, Z.1
Cobos, P.N.2
Mengel, E.3
Hartung, R.4
Beck, M.5
Deschauer, M.6
-
15
-
-
7044264831
-
Immunoquantification of α-galactosidase: Evaluation for the diagnosis of fabry disease
-
DOI 10.1373/clinchem.2004.037937
-
Fuller M, Lovejoy M, Brooks DA, Harkin ML, Hopwood JJ, Meikle PJ. Immunoquantification of alpha-galactosidase: Evaluation for the diagnosis of Fabry disease. Clin Chem 2004;50: 1979-85. (Pubitemid 39425833)
-
(2004)
Clinical Chemistry
, vol.50
, Issue.11
, pp. 1979-1985
-
-
Fuller, M.1
Lovejoy, M.2
Brooks, D.A.3
Harkin, M.L.4
Hopwood, J.J.5
Meikle, P.J.6
-
16
-
-
60649094505
-
Rapid diagnostic testing procedures for lysosomal storage disorders: A-glucosidase and b-galactosidase assays on dried blood spots
-
Gasparotto N, Tomanin R, Frigo AC, Niizawa G, Pasquini E, Blanco M, et al. Rapid diagnostic testing procedures for lysosomal storage disorders: A-glucosidase and b-galactosidase assays on dried blood spots. Clin Chim Acta 2009;402:38-41.
-
(2009)
Clin Chim Acta
, vol.402
, pp. 38-41
-
-
Gasparotto, N.1
Tomanin, R.2
Frigo, A.C.3
Niizawa, G.4
Pasquini, E.5
Blanco, M.6
-
17
-
-
0142182121
-
Towards quality assurance in the determination of lysosomal enzymes: A two-centre study
-
DOI 10.1023/A:1025904132569
-
Lukacs Z, Keil A, Peters V, Kohlschütter A, Hoffmann GF, Cantz M, et al. Towards quality assurance in the determination of lysosomal enzymes: A two-centre study. J Inherit Metab Dis 2003;26:571-81. (Pubitemid 37321536)
-
(2003)
Journal of Inherited Metabolic Disease
, vol.26
, Issue.6
, pp. 571-581
-
-
Lukacs, Z.1
Keil, A.2
Peters, V.3
Kohlschutter, A.4
Hoffmann, G.F.5
Cantz, M.6
Kopitz, J.7
-
18
-
-
77955056761
-
Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry
-
Dajnoki A, Fekete G, Keutzer J, Orsini JJ, De Jesus VR, Chien Y-H, et al. Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry. Clin Chim Acta 2010;411:1428-31.
-
(2010)
Clin Chim Acta
, vol.411
, pp. 1428-31
-
-
Dajnoki, A.1
Fekete, G.2
Keutzer, J.3
Orsini, J.J.4
De Jesus, V.R.5
Chien, Y-.H.6
-
19
-
-
58149215827
-
Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders
-
De Jesus VR, Zhang XK, Keutzer J, Bodamer OA, Mühl A, Orsini JJ, et al. Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders. Clin Chem 2009;55:158-64.
-
(2009)
Clin Chem
, vol.55
, pp. 158-64
-
-
De Jesus, V.R.1
Zhang, X.K.2
Keutzer, J.3
Bodamer, O.A.4
Mühl, A.5
Orsini, J.J.6
|