-
1
-
-
79955577308
-
GM1 gangliosidosis and Morquio B disease: An update on genetic alterations and clinical findings
-
1:CAS:528:DC%2BC3MXlvVWrs7k%3D 3210552 21497194 10.1016/j.bbadis.2011.03. 018
-
Caciotti A, Garman SC, Rivera-Colón Y, Procopio E, Catarzi S, Ferri L, et al. GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. Biochim Biophys Acta. 2011;1812:782-90.
-
(2011)
Biochim Biophys Acta
, vol.1812
, pp. 782-790
-
-
Caciotti, A.1
Garman, S.C.2
Rivera-Colón, Y.3
Procopio, E.4
Catarzi, S.5
Ferri, L.6
-
2
-
-
60649094505
-
Rapid diagnostic testing procedures for lysosomal storage disorders: α-glucosidase and β-galactosidase assay on dried blood spots
-
1:CAS:528:DC%2BD1MXisFahtb0%3D 19111682 10.1016/j.cca.2008.12.006
-
Gasparotto N, Tomanin R, Frigo AC, Niizawa G, Pasquini E, Blanco M, et al. Rapid diagnostic testing procedures for lysosomal storage disorders: α-glucosidase and β-galactosidase assay 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
-
3
-
-
33746284598
-
Newborn screening for lysosomal storage disorders
-
1:CAS:528:DC%2BD28Xns1Kjsrk%3D 16600651 10.1016/j.ymgme.2006.02.013
-
Meikle PJ, Grasby DJ, Dean CJ, Lang DL, Bockmann M, Whittle AM, et al. Newborn screening for lysosomal storage disorders. Mol Genet Metab. 2006;88:307-14.
-
(2006)
Mol Genet Metab
, vol.88
, pp. 307-314
-
-
Meikle, P.J.1
Grasby, D.J.2
Dean, C.J.3
Lang, D.L.4
Bockmann, M.5
Whittle, A.M.6
-
4
-
-
46749113388
-
GM1 gangliosidosis: Review of clinical, molecular, and therapeutic aspects
-
1:CAS:528:DC%2BD1cXosVOntbw%3D 18524657 10.1016/j.ymgme.2008.04.012
-
Brunetti-Pierri N, Scaglia F. GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. Mol Genet Metab. 2008;94:391-6.
-
(2008)
Mol Genet Metab
, vol.94
, pp. 391-396
-
-
Brunetti-Pierri, N.1
Scaglia, F.2
-
5
-
-
60749131382
-
The potential action of galactose as a "chemical chaperone": Increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient
-
10.1016/j.ejpn.2008.03.004
-
Caciotti A, Donati MA, d'azzo A, Salvioli R, Guerrini R, Zammarchi E, et al. The potential action of galactose as a "chemical chaperone": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient. Eur J Pediatr Neurol. 2009;13:160-4.
-
(2009)
Eur J Pediatr Neurol
, vol.13
, pp. 160-164
-
-
Caciotti, A.1
Donati, M.A.2
D'Azzo, A.3
Salvioli, R.4
Guerrini, R.5
Zammarchi, E.6
-
6
-
-
0037505669
-
Gaucher disease: From fundamental research to effective therapeutic interventions
-
12688562
-
de Fost M, Aerts JMFG, Hollak CEM. Gaucher disease: from fundamental research to effective therapeutic interventions. Neth J Med. 2003;61:3-8.
-
(2003)
Neth J Med
, vol.61
, pp. 3-8
-
-
De Fost, M.1
Aerts, J.2
Hollak, C.E.M.3
-
7
-
-
78650900250
-
Hemoglobin precipitation greatly improves 4-methylumbelliferone-based diagnostic assays for lysosomal storage diseases in dried blood spots
-
1:CAS:528:DC%2BC3MXjvFygtQ%3D%3D 20947400 10.1016/j.ymgme.2010.09.008
-
Oemardien LF, Boer AM, Ruijter GJG, van der Ploeg AT, de Klerk JBC, Reuser AJJ, et al. Hemoglobin precipitation greatly improves 4-methylumbelliferone-based diagnostic assays for lysosomal storage diseases in dried blood spots. Mol Genet Metab. 2011;102:44-8.
-
(2011)
Mol Genet Metab
, vol.102
, pp. 44-48
-
-
Oemardien, L.F.1
Boer, A.M.2
Ruijter, G.J.G.3
Van Der Ploeg, A.T.4
De Klerk, J.B.C.5
Reuser, A.J.J.6
-
8
-
-
33747815417
-
Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases
-
1:CAS:528:DC%2BD28XovVSktrg%3D 16712827 10.1016/j.cca.2006.03.029
-
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.
-
(2006)
Clin Chim Acta
, vol.372
, pp. 98-102
-
-
Civallero, G.1
Michelin, K.2
De Mari, J.3
Viapiana, M.4
Burin, M.5
Coelho, J.C.6
-
9
-
-
79958109784
-
A microfluidic device with fluorimetric detection for intracellular components analysis
-
1:CAS:528:DC%2BC3MXlsVKltbs%3D 3085115 21222164 10.1007/s10544-011-9511-0
-
Kwapiszewski R, Skolimowski M, Ziółkowska K, Jȩdrych E, Chudy M, Dybko A, et al. A microfluidic device with fluorimetric detection for intracellular components analysis. Biomed Microdevices. 2011;13:431-40.
-
(2011)
Biomed Microdevices
, vol.13
, pp. 431-440
-
-
Kwapiszewski, R.1
Skolimowski, M.2
Ziółkowska, K.3
Jȩdrych, E.4
Chudy, M.5
Dybko, A.6
-
10
-
-
68049098194
-
New strategy for the screening of lysosomal storage disorders: The use of the online trapping-and-cleanup liquid chromatography/mass spectrometry
-
19555116 10.1021/ac900504s
-
la Marca G, Casetta B, Malvagia S, Guerrini R, Zammarchi E. New strategy for the screening of lysosomal storage disorders: the use of the online trapping-and-cleanup liquid chromatography/mass spectrometry. Anal Chem. 2009;81:6113-21.
-
(2009)
Anal Chem
, vol.81
, pp. 6113-6121
-
-
La Marca, G.1
Casetta, B.2
Malvagia, S.3
Guerrini, R.4
Zammarchi, E.5
-
11
-
-
33745108808
-
Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders
-
1:CAS:528:DC%2BD28XlsV2ltbc%3D 2488386 16763908 10.1007/s10545-006-0265-4
-
Gelb MH, Turecek F, Scott CR, Chamoles NA. Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders. J Inherit Metab Dis. 2006;29:397-404.
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 397-404
-
-
Gelb, M.H.1
Turecek, F.2
Scott, C.R.3
Chamoles, N.A.4
-
12
-
-
84859104662
-
Direct analysis of dried blood spots coupled with mass spectrometry: Concepts and biomedical applications
-
1:CAS:528:DC%2BC3MXnvFOru7Y%3D 21706235 10.1007/s00216-011-5161-6
-
Deglon J, Thomas A, Mangin P, Staub C. Direct analysis of dried blood spots coupled with mass spectrometry: concepts and biomedical applications. Anal Bioanal Chem. 2012;402:2485-98.
-
(2012)
Anal Bioanal Chem
, vol.402
, pp. 2485-2498
-
-
Deglon, J.1
Thomas, A.2
Mangin, P.3
Staub, C.4
-
13
-
-
84856968591
-
Review: Recent developments in enzyme-based biosensors for biomedical analysis
-
1:CAS:528:DC%2BC38XhvVOht7k%3D 10.1080/00032719.2011.633188
-
Ispas CR, Crivat G, Andreescu S. Review: recent developments in enzyme-based biosensors for biomedical analysis. Anal Lett. 2012;45:168-86.
-
(2012)
Anal Lett
, vol.45
, pp. 168-186
-
-
Ispas, C.R.1
Crivat, G.2
Andreescu, S.3
-
14
-
-
84862907649
-
Point of care diagnostics: Status and future
-
1:CAS:528:DC%2BC3MXhs1GlsLfF 22221172 10.1021/ac2030199
-
Gubala V, Harris LF, Ricco AJ, Tan MX, Williams DE. Point of care diagnostics: status and future. Anal Chem. 2012;84:487-515.
-
(2012)
Anal Chem
, vol.84
, pp. 487-515
-
-
Gubala, V.1
Harris, L.F.2
Ricco, A.J.3
Tan, M.X.4
Williams, D.E.5
-
15
-
-
77953576255
-
Latest developments in micro total analysis systems
-
1:CAS:528:DC%2BC3cXlvFyrsbc%3D 20462185 10.1021/ac100969k
-
Arora A, Simone G, Salieb-Beugelaar GB, Kim JT, Manz A. Latest developments in micro total analysis systems. Anal Chem. 2010;82:4830-47.
-
(2010)
Anal Chem
, vol.82
, pp. 4830-4847
-
-
Arora, A.1
Simone, G.2
Salieb-Beugelaar, G.B.3
Kim, J.T.4
Manz, A.5
-
16
-
-
0035202118
-
Hurler-like phenotype: Enzymatic diagnosis in dried blood spots on filter paper
-
1:CAS:528:DC%2BD3MXovVOmsrs%3D 11719472
-
Chamoles NA, Blanco MB, Gaggioli D, Casentini C. Hurler-like phenotype: enzymatic diagnosis in dried blood spots on filter paper. Clin Chem. 2001;47:2098-102.
-
(2001)
Clin Chem
, vol.47
, pp. 2098-2102
-
-
Chamoles, N.A.1
Blanco, M.B.2
Gaggioli, D.3
Casentini, C.4
-
17
-
-
79958859745
-
Substrate inhibition of lysosomal hydrolases: α-galactosidase A and β-glucocerebrosidase
-
1:CAS:528:DC%2BC3MXnsVWns7o%3D 21569768 10.1016/j.clinbiochem.2011.04.018
-
Kwapiszewski R, Czartoryska B, Ziolkowska K, Chudy M, Dybko A, Brzozka Z. Substrate inhibition of lysosomal hydrolases: α-galactosidase A and β-glucocerebrosidase. Clin Biochem. 2011;44:941-3.
-
(2011)
Clin Biochem
, vol.44
, pp. 941-943
-
-
Kwapiszewski, R.1
Czartoryska, B.2
Ziolkowska, K.3
Chudy, M.4
Dybko, A.5
Brzozka, Z.6
-
18
-
-
77951761289
-
The biological significance of substrate inhibition: A mechanism with diverse functions
-
1:CAS:528:DC%2BC3cXntlOhu74%3D 20414900 10.1002/bies.200900167
-
Reed MC, Lieb A, Nijhout HF. The biological significance of substrate inhibition: a mechanism with diverse functions. Bioessays. 2010;32:422-9.
-
(2010)
Bioessays
, vol.32
, pp. 422-429
-
-
Reed, M.C.1
Lieb, A.2
Nijhout, H.F.3
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