-
1
-
-
0015214796
-
Diagnosis of glycosphingolipidoses by urinary-sediment analysis
-
Desnick R.J., Dawson G., Desnick S.J., Sweeley C.C., and Krivit W. Diagnosis of glycosphingolipidoses by urinary-sediment analysis. N. Engl. J. Med. 284 (1971) 739-744
-
(1971)
N. Engl. J. Med.
, vol.284
, pp. 739-744
-
-
Desnick, R.J.1
Dawson, G.2
Desnick, S.J.3
Sweeley, C.C.4
Krivit, W.5
-
2
-
-
33947718746
-
Narrative review: Fabry disease
-
Clarke J.T.R. Narrative review: Fabry disease. Ann. Intern. Med. 146 (2007) 425-433
-
(2007)
Ann. Intern. Med.
, vol.146
, pp. 425-433
-
-
Clarke, J.T.R.1
-
3
-
-
33645660994
-
Manifestations of Fabry disease in placental tissue
-
Vedder A.C., Strijland A., vd Bergh Weerman M.A., Florquin S., Aerts J.M.F.G., and Hollak C.E.M. Manifestations of Fabry disease in placental tissue. J. Inherit. Metab. Dis. 29 (2006) 106-111
-
(2006)
J. Inherit. Metab. Dis.
, vol.29
, pp. 106-111
-
-
Vedder, A.C.1
Strijland, A.2
vd Bergh Weerman, M.A.3
Florquin, S.4
Aerts, J.M.F.G.5
Hollak, C.E.M.6
-
4
-
-
34547731457
-
Prenatal diagnosis of Fabry disease
-
Desnick R.J. Prenatal diagnosis of Fabry disease. Prenat. Diagn. 27 (2007) 693-694
-
(2007)
Prenat. Diagn.
, vol.27
, pp. 693-694
-
-
Desnick, R.J.1
-
5
-
-
53749104902
-
Fabry's disease
-
Zarate Y.A., and Hopkin R.J. Fabry's disease. Lancet 372 (2008) 1427-1435
-
(2008)
Lancet
, vol.372
, pp. 1427-1435
-
-
Zarate, Y.A.1
Hopkin, R.J.2
-
6
-
-
40849094670
-
Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease
-
Wraith J.E., Tylki-Szymanska A., Guffon N., Lien Y.H., Tsimaratos M., Vellodi A., and Germain D.P. Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease. J. Pediatr. 152 (2008) 563-570
-
(2008)
J. Pediatr.
, vol.152
, pp. 563-570
-
-
Wraith, J.E.1
Tylki-Szymanska, A.2
Guffon, N.3
Lien, Y.H.4
Tsimaratos, M.5
Vellodi, A.6
Germain, D.P.7
-
7
-
-
55849108852
-
Characterization of Fabry disease in 352 pediatric patients in the Fabry registry
-
Hopkin R.J., Bissler J., Banikazemi M., Clarke L., Eng C.M., Germain D.P., Lemay R., Tylki-Szymanska A., and Wilcox W.R. Characterization of Fabry disease in 352 pediatric patients in the Fabry registry. Pediatr. Res. 64 (2008) 550-555
-
(2008)
Pediatr. Res.
, vol.64
, pp. 550-555
-
-
Hopkin, R.J.1
Bissler, J.2
Banikazemi, M.3
Clarke, L.4
Eng, C.M.5
Germain, D.P.6
Lemay, R.7
Tylki-Szymanska, A.8
Wilcox, W.R.9
-
8
-
-
77956776658
-
Natural history of Fabry disease
-
Mehta A., Beck M., and Sunder-Plassmann G. (Eds), Oxford PharmaGenesis Ltd.
-
Mehta A., and Widmer U. Natural history of Fabry disease. In: Mehta A., Beck M., and Sunder-Plassmann G. (Eds). Fabry Disease. Perspectives from 5 Years of FOS vol. 423 (2006), Oxford PharmaGenesis Ltd.
-
(2006)
Fabry Disease. Perspectives from 5 Years of FOS
, vol.423
-
-
Mehta, A.1
Widmer, U.2
-
9
-
-
33644830752
-
Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement
-
Schiffmann R., Rapkiewicz A., Abu-Asab M., Ries M., Askari H., Tsokos M., and Quezado M. Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement. Virchows Arch. 448 (2006) 337-343
-
(2006)
Virchows Arch.
, vol.448
, pp. 337-343
-
-
Schiffmann, R.1
Rapkiewicz, A.2
Abu-Asab, M.3
Ries, M.4
Askari, H.5
Tsokos, M.6
Quezado, M.7
-
10
-
-
18244397953
-
Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement
-
Moore D.F., Altarescu G., Ling G.S.F., Jeffries N., Frei K.P., Weibel T., Charria-Ortiz G., Ferri R., Arai A.E., Brady R.O., and Schiffmann R. Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. Stroke 33 (2002) 525-531
-
(2002)
Stroke
, vol.33
, pp. 525-531
-
-
Moore, D.F.1
Altarescu, G.2
Ling, G.S.F.3
Jeffries, N.4
Frei, K.P.5
Weibel, T.6
Charria-Ortiz, G.7
Ferri, R.8
Arai, A.E.9
Brady, R.O.10
Schiffmann, R.11
-
11
-
-
27844441232
-
Fabry's disease - an important risk factor for stroke
-
Schiffmann R., and Ries M. Fabry's disease - an important risk factor for stroke. Lancet 366 (2005) 1754-1756
-
(2005)
Lancet
, vol.366
, pp. 1754-1756
-
-
Schiffmann, R.1
Ries, M.2
-
12
-
-
33947687663
-
Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry registry
-
Eng C.M., Fletcher J., Wilcox W.R., Waldek S., Scott C.R., Sillence D.O., Breunig E., Charrow J., Germain D.P., Nicholls K., and Banikazemi M. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry registry. J. Inherit. Metab. Dis. 30 (2007) 184-192
-
(2007)
J. Inherit. Metab. Dis.
, vol.30
, pp. 184-192
-
-
Eng, C.M.1
Fletcher, J.2
Wilcox, W.R.3
Waldek, S.4
Scott, C.R.5
Sillence, D.O.6
Breunig, E.7
Charrow, J.8
Germain, D.P.9
Nicholls, K.10
Banikazemi, M.11
-
13
-
-
33749067655
-
Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease
-
Ries M., Clarke J.T.R., Whybra C., Timmons M., Robinson C., Schlaggar B.L., Pastores G., Lien Y.H., Kampmann C., Brady R.O., Beck M., and Schiffmann R. Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease. Pediatrics 118 (2006) 924-932
-
(2006)
Pediatrics
, vol.118
, pp. 924-932
-
-
Ries, M.1
Clarke, J.T.R.2
Whybra, C.3
Timmons, M.4
Robinson, C.5
Schlaggar, B.L.6
Pastores, G.7
Lien, Y.H.8
Kampmann, C.9
Brady, R.O.10
Beck, M.11
Schiffmann, R.12
-
14
-
-
34248190164
-
Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease
-
Germain D.P., Waldek S., Banikazemi M., Bushinsky D.A., Charrow J., Desnick R.J., Lee P., Loew T., Vedder A.C., Abichandani R., Wilcox W.R., and Guffon N. Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J. Am. Soc. Nephrol. 18 (2007) 1547-1557
-
(2007)
J. Am. Soc. Nephrol.
, vol.18
, pp. 1547-1557
-
-
Germain, D.P.1
Waldek, S.2
Banikazemi, M.3
Bushinsky, D.A.4
Charrow, J.5
Desnick, R.J.6
Lee, P.7
Loew, T.8
Vedder, A.C.9
Abichandani, R.10
Wilcox, W.R.11
Guffon, N.12
-
15
-
-
33847050214
-
Clinical results of enzyme replacement therapy in Fabry disease: a comprehensive review of literature
-
Lidove O., Joly D., Barbey F., Bekri S., Alexandra J.-F., Peigne V., Jaussaud R., and Papo T. Clinical results of enzyme replacement therapy in Fabry disease: a comprehensive review of literature. Int. J. Clin. Pract. 61 (2007) 293-302
-
(2007)
Int. J. Clin. Pract.
, vol.61
, pp. 293-302
-
-
Lidove, O.1
Joly, D.2
Barbey, F.3
Bekri, S.4
Alexandra, J.-F.5
Peigne, V.6
Jaussaud, R.7
Papo, T.8
-
16
-
-
33846908304
-
Agalsidase-beta therapy for advanced Fabry disease
-
Banikazemi M., Bultas J., Waldek S., Wilcox W.R., Whitley C.B., McDonald M., Finkel R., Packman S., Bichet D.G., Warnock D.G., and Desnick R.J. Agalsidase-beta therapy for advanced Fabry disease. Ann. Intern. Med. 146 (2007) 76-86
-
(2007)
Ann. Intern. Med.
, vol.146
, pp. 76-86
-
-
Banikazemi, M.1
Bultas, J.2
Waldek, S.3
Wilcox, W.R.4
Whitley, C.B.5
McDonald, M.6
Finkel, R.7
Packman, S.8
Bichet, D.G.9
Warnock, D.G.10
Desnick, R.J.11
-
17
-
-
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., Giguère R., and Drouin R. Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease. J. Inherit. Metab. Dis. 30 (2007) 106
-
(2007)
J. Inherit. Metab. Dis.
, vol.30
, pp. 106
-
-
Auray-Blais, C.1
Cyr, D.2
Mills, K.3
Giguère, R.4
Drouin, R.5
-
18
-
-
38849109999
-
Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease
-
Auray-Blais C., Cyr D., Ntwari A., West M.L., Cox-Brinkman J., Bichet D.G., Germain D.P., Laframboise R., Melançon S.B., Stockley T., Clarke J.T.R., and Drouin R. Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease. Mol. Genet. Metab. 93 (2008) 331-340
-
(2008)
Mol. Genet. Metab.
, vol.93
, 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
Melançon, S.B.9
Stockley, T.10
Clarke, J.T.R.11
Drouin, R.12
-
19
-
-
34548498128
-
Quebec neonatal mass urinary screening programme: from micromolecules to macromolecules
-
Auray-Blais C., Cyr D., and Drouin R. Quebec neonatal mass urinary screening programme: from micromolecules to macromolecules. J. Inherit. Metab. Dis. 30 (2007) 515-521
-
(2007)
J. Inherit. Metab. Dis.
, vol.30
, pp. 515-521
-
-
Auray-Blais, C.1
Cyr, D.2
Drouin, R.3
-
20
-
-
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., and Schiffmann R. Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease. J. Inherit. Metab. Dis. 32 (2009) 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
-
21
-
-
0142185106
-
Fabry disease: D313Y is an α-galactosidase A sequence variant that causes pseudodeficient activity in plasma
-
Froissart R., Guffon N., Vanier M.T., Desnick R.J., and Maire I. Fabry disease: D313Y is an α-galactosidase A sequence variant that causes pseudodeficient activity in plasma. Mol. Genet. Metab. 80 (2003) 307-314
-
(2003)
Mol. Genet. Metab.
, vol.80
, pp. 307-314
-
-
Froissart, R.1
Guffon, N.2
Vanier, M.T.3
Desnick, R.J.4
Maire, I.5
-
22
-
-
0042420653
-
Newborn urine screening programme in the province of Quebec: an update of 30 years' experience
-
Auray-Blais C., Giguère R., and Lemieux B. Newborn urine screening programme in the province of Quebec: an update of 30 years' experience. J. Inherit. Metab. Dis. 26 (2003) 393-402
-
(2003)
J. Inherit. Metab. Dis.
, vol.26
, pp. 393-402
-
-
Auray-Blais, C.1
Giguère, R.2
Lemieux, B.3
-
23
-
-
0036117762
-
Renal aspects of the term and preterm infant: a selective update
-
Dukker A., and Guignard J.-P. Renal aspects of the term and preterm infant: a selective update. Curr. Opin. Pediar. 14 (2002) 175-182
-
(2002)
Curr. Opin. Pediar.
, vol.14
, pp. 175-182
-
-
Dukker, A.1
Guignard, J.-P.2
-
24
-
-
63449141054
-
3 (globotriaosylceramide, CTH, GL3)
-
3 (globotriaosylceramide, CTH, GL3). Mol. Genet. Metab. 97 (2009) 91
-
(2009)
Mol. Genet. Metab.
, vol.97
, pp. 91
-
-
Forni, S.1
Fu, X.2
Schiffmann, R.3
Sweetman, L.4
-
25
-
-
13844276598
-
Measurement of urinary CDH ant CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease
-
Mills K., Morris P., Lee P., Vellodi A., Waldek S., Young E., and Winchester B. Measurement of urinary CDH ant CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease. J. Inherit. Metab. Dis. 28 (2005) 35-48
-
(2005)
J. Inherit. Metab. Dis.
, vol.28
, pp. 35-48
-
-
Mills, K.1
Morris, P.2
Lee, P.3
Vellodi, A.4
Waldek, S.5
Young, E.6
Winchester, B.7
-
26
-
-
20844448872
-
Monitoring enzyme replacement therapy in Fabry disease - role of urine globotriaosylceramide
-
Whitfield P.D., Calvin J., Hogg S., O'Driscoll E., Halsall D., Burling K., Maguire G., Wright N., Cox T.M., Meikle P.J., and Deegan P.B. Monitoring enzyme replacement therapy in Fabry disease - role of urine globotriaosylceramide. J. Inherit. Metab. Dis. 28 (2005) 21-33
-
(2005)
J. Inherit. Metab. Dis.
, vol.28
, 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
-
27
-
-
0033108924
-
Why do newborn infants have a high plasma creatinine?
-
Guignard J.-P., and Drukker A. Why do newborn infants have a high plasma creatinine?. Pediatrics 103 (1999) e49-e55
-
(1999)
Pediatrics
, vol.103
-
-
Guignard, J.-P.1
Drukker, A.2
-
28
-
-
38049123539
-
Newborn screening for cystic fibrosis: evidence for benefit
-
Balfour-Lynn I. Newborn screening for cystic fibrosis: evidence for benefit. BMJ 93 (2008) 7-10
-
(2008)
BMJ
, vol.93
, pp. 7-10
-
-
Balfour-Lynn, I.1
-
29
-
-
41449107320
-
Fabry disease - Whom to treat and when?
-
Mehta A. Fabry disease - Whom to treat and when?. Clin. Ther. 30 (2008) S43-S44
-
(2008)
Clin. Ther.
, vol.30
-
-
Mehta, A.1
-
30
-
-
57349113073
-
Disease rarity, carrier status, and gender: a triple disadvantage for women with Fabry disease
-
Gibas A.L., Klatt R., Johnson J., Clarke J.T.R., and Katz J. Disease rarity, carrier status, and gender: a triple disadvantage for women with Fabry disease. J. Genet. Couns. 17 (2008) 528-537
-
(2008)
J. Genet. Couns.
, vol.17
, pp. 528-537
-
-
Gibas, A.L.1
Klatt, R.2
Johnson, J.3
Clarke, J.T.R.4
Katz, J.5
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