-
1
-
-
80052132733
-
Fabry-Anderson disease: Current state of knowledge
-
Vega-Vega, O.; Pérez-Gutiérrez, A.; Correa-Rotter, R. Fabry-Anderson disease: current state of knowledge. Rev. Invest. Clin., 2011, 63(3), 314-321.
-
(2011)
Rev. Invest. Clin.
, vol.63
, Issue.3
, pp. 314-321
-
-
Vega-Vega, O.1
Pérez-Gutiérrez, A.2
Correa-Rotter, R.3
-
2
-
-
0033585476
-
Prevalence of lysosomal storage disorders
-
DOI 10.1001/jama.281.3.249
-
Meikle, P.J; Hopwood, J.J.; Clague, A.E.; Carey, W.F. Prevalence of lysosomal storage disorders. JAMA, 1999, 281, 249-254. (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
-
3
-
-
33745280137
-
High incidence of later-onset Fabry disease revealed by newborn screening
-
DOI 10.1086/504601
-
Spada, M.; Pagliardini, S.; Yasuda, M.; Tukel, T.; Thiagarajan, G.; Sakuraba, H.; Ponzone, A.; Desnick, R.J. High incidence of later-onset Fabry disease revealed by newborn screening. Am. J. Hum. Genet., 2006, 79, 31-40. (Pubitemid 43927374)
-
(2006)
American Journal of Human Genetics
, vol.79
, Issue.1
, pp. 31-40
-
-
Spada, M.1
Pagliardini, S.2
Yasuda, M.3
Tukel, T.4
Thiagarajan, G.5
Sakuraba, H.6
Ponzone, A.7
Desnick, R.J.8
-
4
-
-
33947718746
-
Narrative review: Fabry disease
-
Clarke, J.T.R. Narrative review: Fabry disease. Ann. Intern. Med., 2007, 146, 425-433. (Pubitemid 351650579)
-
(2007)
Annals of Internal Medicine
, vol.146
, Issue.6
, pp. 425-433
-
-
Clarke, J.T.R.1
-
5
-
-
13844276598
-
Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease
-
DOI 10.1007/s10545-005-5263-4
-
Mills, K.; Morris, P.; Lee, P.; Vellodi, A.; Waldek, S.; Young, E.; Winchester, B. Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease. J. Inherit. Metab. Dis., 2005, 28, 35-48. (Pubitemid 40253982)
-
(2005)
Journal of Inherited Metabolic Disease
, vol.28
, Issue.1
, pp. 35-48
-
-
Mills, K.1
Morris, P.2
Lee, P.3
Vellodi, A.4
Waldek, S.5
Young, E.6
Winchester, B.7
-
6
-
-
38849109999
-
Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease
-
DOI 10.1016/j.ymgme.2007.10.001, PII S1096719207004428
-
Auray-Blais, C.; Cyr, D.; Ntwar, A.; West, M.L.; Cox-Brinkman, J.; Bichet, D.G.; Germain, D.P.; Laframboise, R.; Melancon, S.B.; Stockley, T.; Clarke, J.T.R.; Drouin, R. Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease. Mol. Genet. Metab., 2008, 93, 331-340. (Pubitemid 351192345)
-
(2008)
Molecular Genetics and Metabolism
, vol.93
, Issue.3
, pp. 331-340
-
-
Auray-Blais, C.1
Cyr, D.2
Ntwari, A.3
West, M.L.4
Cox-Brinkman, J.5
Bichet, D.G.6
Germain, D.P.7
Laframboise, R.8
Melancon, S.B.9
Stockley, T.10
Clarke, J.T.R.11
Drouin, R.12
-
7
-
-
64349104706
-
Proposed high-risk screening protocol for fabry disease in patients with renal and vascular disease
-
Auray-Blais, C.; Millington, D.S.; Young, S.P.; Clarke, J.T.R.; Schiffmann, R. Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease. J. Inherit. Metab. Dis., 2009, 32, 303-308.
-
(2009)
J. Inherit. Metab. Dis.
, vol.32
, pp. 303-308
-
-
Auray-Blais, C.1
Millington, D.S.2
Young, S.P.3
Clarke, J.T.R.4
Schiffmann, R.5
-
8
-
-
33847796285
-
Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for fabry disease
-
Auray-Blais, C.; Cyr, D.; Mills, K.; Giguére, R.; Drouin, R. Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease. J. Inherit. Metab. Dis., 2007, 30, 106.
-
(2007)
J. Inherit. Metab. Dis.
, vol.30
, pp. 106
-
-
Auray-Blais, C.1
Cyr, D.2
Mills, K.3
Giguére, R.4
Drouin, R.5
-
9
-
-
54049125089
-
Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry
-
Zhang, X.K.; Elbin, C.S.; Chuang, W.L.; Cooper, S.K.; Marashio, C.A.; Beauregard, C.; Keutzer, J.M. Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry. Clin. Chem., 2008, 54, 1725-1728.
-
(2008)
Clin. Chem.
, vol.54
, pp. 1725-1728
-
-
Zhang, X.K.1
Elbin, C.S.2
Chuang, W.L.3
Cooper, S.K.4
Marashio, C.A.5
Beauregard, C.6
Keutzer, J.M.7
-
10
-
-
20844448872
-
Monitoring enzyme replacement therapy in Fabry disease - Role of urine globotriaosylceramide
-
DOI 10.1007/s10545-005-4415-x
-
Whitfield, P.D.; Calvin, J.; Hogg, S.; O'Driscoll, E.; Halsall, D.; Burling, K.; Maguire, G.; Wright, N.; Cox, T.M.; Meikle, P.J.; Deegan, P.B. Monitoring enzyme replacement therapy in Fabry disease-role of urine globotriaosylceramide. J. Inherit. Metab. Dis., 2005, 28, 21-33. (Pubitemid 40253981)
-
(2005)
Journal of Inherited Metabolic Disease
, vol.28
, Issue.1
, pp. 21-33
-
-
Whitfield, P.D.1
Calvin, J.2
Hogg, S.3
O'Driscoll, E.4
Halsall, D.5
Burling, K.6
Maguire, G.7
Wright, N.8
Cox, T.M.9
Meikle, P.J.10
Deegan, P.B.11
-
11
-
-
77957756430
-
How well does urinary lyso-gb3 function as a biomarker in fabry disease?
-
Auray-Blais, C.; Ntwari, A.; Clarke, J.T.R.; Warnock, D.; Oliveira, J.P.F.S.; Young, S.P.; Millington, D.S.; Bichet, D.G.; Sirrs, S.; West, M.L.; Casey, R.; Wu, W.L.; Keutzer, J.; Zhang, K.; Gagnon, R. How well does urinary lyso-Gb3 function as a biomarker in Fabry disease? Clin. Chim. Acta, 2010, 411, 1906-1914.
-
(2010)
Clin. Chim. Acta
, vol.411
, pp. 1906-1914
-
-
Auray-Blais, C.1
Ntwari, A.2
Clarke, J.T.R.3
Warnock, D.4
Oliveira, J.P.F.S.5
Young, S.P.6
Millington, D.S.7
Bichet, D.G.8
Sirrs, S.9
West, M.L.10
Casey, R.11
Wu, W.L.12
Keutzer, J.13
Zhang, K.14
Gagnon, R.15
-
12
-
-
42949119819
-
Elevated globotriaosylsphingosine is a hallmark of Fabry disease
-
DOI 10.1073/pnas.0712309105
-
Aerts, J.M.; Groener, J.E.; Kuiper, S.; Donker-Koopman, W.E.; Strijland, A.; Ottenhof, R.; van Roomen, C.; Mirzaian, M.; Wijburg, F.A.; Linthorst, G.E.; Vedder, A.C.; Rombach, S.M.; Cox-Brinkman, J.; Somerharju, P.; Boot, R.G.; Hollak, C.E.; Brady, R.O.; Poorthuis, B.J. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc. Natl. Acad. Sci., 2008, 105, 2812-2817. (Pubitemid 351723626)
-
(2008)
Proceedings of the National Academy of Sciences of the United States of America
, vol.105
, Issue.8
, pp. 2812-2817
-
-
Aerts, J.M.1
Groener, J.E.2
Kuiper, S.3
Donker-Koopman, W.E.4
Strijland, A.5
Ottenhoff, R.6
Van Roomen, C.7
Mirzaian, M.8
Wijburg, F.A.9
Linthorst, G.E.10
Vedder, A.C.11
Rombach, S.M.12
Cox-Brinkman, J.13
Somerharju, P.14
Boot, R.G.15
Hollak, C.E.16
Brady, R.O.17
Poorthuis, B.J.18
-
13
-
-
77953021876
-
Plasma globotriaosylsphingosine as a biomarker of fabry disease
-
Togawa, T.; Kodama, T.; Suzuki, T.; Sugawara, K.; Tsukimura, T.; Ohash, T.; Ishig, N.; Suzuki, K.; Kitagawa, T.; Sakuraba, H. Plasma globotriaosylsphingosine as a biomarker of Fabry disease. Mol. Genet. Metab., 2010, 100, 257-261.
-
(2010)
Mol. Genet. Metab.
, vol.100
, pp. 257-261
-
-
Togawa, T.1
Kodama, T.2
Suzuki, T.3
Sugawara, K.4
Tsukimura, T.5
Ohash, T.6
Ishig, N.7
Suzuki, K.8
Kitagawa, T.9
Sakuraba, H.10
-
14
-
-
77954959657
-
Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of fabry disease
-
Rombach, S.M.; Dekker, N.; Bouwman, M.G.; Linthorst, G.E.; Zwinderman, A.H.; Wijburg, F.A.; Kuiper, S.; vd Bergh Weerman, M.A.; Groener, J.E.M.; Poorthuis, B.J.; Hollak, C.E.M.; Aerts, J.M.F.G. Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease. Biochim. Biophys. Acta, 2010 1802(9), 741-748.
-
(2010)
Biochim. Biophys. Acta
, vol.1802
, Issue.9
, pp. 741-748
-
-
Rombach, S.M.1
Dekker, N.2
Bouwman, M.G.3
Linthorst, G.E.4
Zwinderman, A.H.5
Wijburg, F.A.6
Kuiper, S.7
Vd Bergh Weerman, M.A.8
Groener, J.E.M.9
Poorthuis, B.J.10
Hollak, C.E.M.11
Aerts, J.M.F.G.12
-
15
-
-
79958165587
-
Globotriaosylsphingosine actions on human glomerular podocytes: Implications for fabry nephropathy
-
Sanchez-Nio, M.D.; Sanz, A.B.; Carras, S.; Saleem, M.A.; Mathieso, P.W.; Valdivielso, J.M.; Ruiz-Ortega, M.; Egido, J.; Ortiz, A. Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy. Nephrol. Dial. Transplant., 2011, 26, 1797-1802.
-
(2011)
Nephrol. Dial. Transplant.
, vol.26
, pp. 1797-1802
-
-
Sanchez-Nio, M.D.1
Sanz, A.B.2
Carras, S.3
Saleem, M.A.4
Mathieso, P.W.5
Valdivielso, J.M.6
Ruiz-Ortega, M.7
Egido, J.8
Ortiz, A.9
-
16
-
-
78650275925
-
Reduction of elevated plasma globotriaosylsphingosine in patients with classic fabry disease following enzyme replacement therapy
-
van Breemen, M.J.; Rombac, S.M.; Dekker, N.; Poorthuis, B.J.; Linthorst, G.E.; Zwinderman, A.H.; Breunig, F.; Wanner, C.; Aerts, J.M.; Hollak, C.E. Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy. Biochim. Biophys. Acta, 2011,1812, 70-76.
-
(2011)
Biochim. Biophys. Acta
, vol.1812
, pp. 70-76
-
-
Van Breemen, M.J.1
Rombac, S.M.2
Dekker, N.3
Poorthuis, B.J.4
Linthorst, G.E.5
Zwinderman, A.H.6
Breunig, F.7
Wanner, C.8
Aerts, J.M.9
Hollak, C.E.10
-
17
-
-
77956264231
-
Tissue and plasma globotriaosylsphingosine could be a biomarker for assessing enzyme replacement therapy for fabry disease
-
Togawa, T.; Kawashima, I.; Kodama, T.; Tsukimura, T.; Suzuki, T.; Fukushige, T.; Kanekura, T.; Sakuraba, H. Tissue and plasma globotriaosylsphingosine could be a biomarker for assessing enzyme replacement therapy for Fabry disease. Biochem. Biophys. Res. Commun., 2010, 399(4), 716-720.
-
(2010)
Biochem. Biophys. Res. Commun.
, vol.399
, Issue.4
, pp. 716-720
-
-
Togawa, T.1
Kawashima, I.2
Kodama, T.3
Tsukimura, T.4
Suzuki, T.5
Fukushige, T.6
Kanekura, T.7
Sakuraba, H.8
-
18
-
-
33748067327
-
Establishing reporting standards for metabolomic and metabonomic studies: A call for participation
-
DOI 10.1089/omi.2006.10.158
-
Fiehn, O.; Kristal, B.; van Ommen, B.; Sumne, L.W.; Sansone, S.A.; Taylor, C.; Hardy, N.; Kaddurah-Daouk, R. Establishing reporting standards for metabolomic and metabonomic studies: A call for participation. OMICS, 2006, 10(2), 158-163. (Pubitemid 44298603)
-
(2006)
OMICS A Journal of Integrative Biology
, vol.10
, Issue.2
, pp. 158-163
-
-
Fiehn, O.1
Kristal, B.2
Van Ommen, B.3
Sumner, L.W.4
Sansone, S.-A.5
Taylor, C.6
Hardy, N.7
Kaddurah-Daouk, R.8
-
19
-
-
79251595354
-
The role of metabolites and metabolomics in clinically applicable biomarkers of disease
-
Mamas, M.; Dunn, W.B.; Neyses, L.; Goodacre, R. The role of metabolites and metabolomics in clinically applicable biomarkers of disease. Arch. Toxicol., 2011, 85(1), 5-17.
-
(2011)
Arch. Toxicol.
, vol.85
, Issue.1
, pp. 5-17
-
-
Mamas, M.1
Dunn, W.B.2
Neyses, L.3
Goodacre, R.4
-
20
-
-
79251601094
-
Metabolomics: Biomarkers of disease and drug toxicity
-
Stewart, J.D.; Bolt, H.M. Metabolomics: biomarkers of disease and drug toxicity. Arch. Toxicol., 2011, 85(1), 3-4.
-
(2011)
Arch. Toxicol.
, vol.85
, Issue.1
, pp. 3-4
-
-
Stewart, J.D.1
Bolt, H.M.2
-
21
-
-
80052969796
-
Metabolomics biomarker discovery and fabry disease: An efficient platform is necessary!
-
Auray-Blais, C.; Gagnon, R.; Clarke, J.T.R.; Young, S.P.; Millington, D.S. Metabolomics, biomarker discovery and Fabry disease: an efficient platform is necessary! Clin. Ther., 2009, 31, S24-S25.
-
(2009)
Clin. Ther.
, vol.31
-
-
Auray-Blais, C.1
Gagnon, R.2
Clarke, J.T.R.3
Young, S.P.4
Millington, D.S.5
-
22
-
-
0035566770
-
Structural determination of glycosphingolipids as lithiated adducts by electrospray ionization mass spectrometry using low-energy collisional-Activated dissociation on a triple stage quadrupole instrument
-
Hsu, FF.; Tu, J. Structural determination of glycosphingolipids as lithiated adducts by electrospray ionization mass spectrometry using low-energy collisional-Activated dissociation on a triple stage quadrupole instrument. J. Am. Soc. Mass Spectrom., 2001, 12, 61-79.
-
(2001)
J. Am. Soc. Mass Spectrom.
, vol.12
, pp. 61-79
-
-
Hsu, F.F.1
Tu, J.2
-
23
-
-
2342428150
-
Sphingolipids: Metabolism and cell signaling
-
In: D.E. Vance and J.E. Vance (Eds.) 4th ed.; Elsevier Science B.V., Amsterdam Chapter 14
-
Merrill, Jr. A.H.; Sandh, K. Sphingolipids: metabolism and cell signaling, In: D.E. Vance and J.E. Vance (Eds.) Biochemistry of Lipids, Lipoproteins and Membranes, 4th ed.; Elsevier Science B.V., Amsterdam, 2002; Chapter 14.
-
(2002)
Biochemistry of Lipids, Lipoproteins and Membranes
-
-
Merrill Jr., A.H.1
Sandh, K.2
-
24
-
-
0014868653
-
On the chemistry and occurence of sphingolipid long-chain bases
-
Karlsson, K.A. On the chemistry and occurence of sphingolipid long-chain bases. Chem. Phys. Lipids, 1970, 5, 6-43.
-
(1970)
Chem. Phys. Lipids
, vol.5
, pp. 6-43
-
-
Karlsson, K.A.1
|