-
1
-
-
0000889058
-
α-Galactosidase A deficiency: Fabry disease
-
McGraw-Hill, New York, C.R. Scriver, A.L. Beaudet, W.S. Sly (Eds.), 8th ed.
-
Desnick R.J., Ioannou Y.A., Eng C.M. α-Galactosidase A deficiency: Fabry disease. The Metabolic and Molecular Bases of Inherited Disease 2001, 3733-3774. McGraw-Hill, New York. 8th ed. C.R. Scriver, A.L. Beaudet, W.S. Sly (Eds.).
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3733-3774
-
-
Desnick, R.J.1
Ioannou, Y.A.2
Eng, C.M.3
-
2
-
-
84943245507
-
Fabry disease
-
McGraw-Hill, New York, M.F. Murray, M.W. Babyatsky, M.A. Giovanni, F.S. Alkuraya, D.R. Stewart (Eds.)
-
Desnick R.J. Fabry disease. Clinical Genomics: Practical Applications in Adult Patient Care 2014, 439-444. McGraw-Hill, New York. M.F. Murray, M.W. Babyatsky, M.A. Giovanni, F.S. Alkuraya, D.R. Stewart (Eds.).
-
(2014)
Clinical Genomics: Practical Applications in Adult Patient Care
, pp. 439-444
-
-
Desnick, R.J.1
-
3
-
-
12944265457
-
Infusion of α-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease
-
Schiffmann R., Murray G.J., Treco D., et al. Infusion of α-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc Natl Acad Sci U S A 2000, 97:365-370.
-
(2000)
Proc Natl Acad Sci U S A
, vol.97
, pp. 365-370
-
-
Schiffmann, R.1
Murray, G.J.2
Treco, D.3
-
4
-
-
0035097499
-
A phase 1/2 clinical trial of enzyme replacement in Fabry disease: pharmacokinetic, substrate clearance, and safety studies
-
Eng C.M., Banikazemi M., Gordon R., et al. A phase 1/2 clinical trial of enzyme replacement in Fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet 2001, 68:711-722.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 711-722
-
-
Eng, C.M.1
Banikazemi, M.2
Gordon, R.3
-
5
-
-
0035811624
-
Safety and efficacy of recombinant human α-galactosidase A replacement therapy in Fabry's disease
-
Eng C.M., Guffon N., Wilcox W.R., et al. Safety and efficacy of recombinant human α-galactosidase A replacement therapy in Fabry's disease. N Engl J Med 2001, 345:9-16.
-
(2001)
N Engl J Med
, vol.345
, pp. 9-16
-
-
Eng, C.M.1
Guffon, N.2
Wilcox, W.R.3
-
6
-
-
0035816007
-
Enzyme replacement therapy in Fabry disease: a randomized controlled trial
-
Schiffmann R., Kopp J.B., Austin H.A., et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001, 285:2743-2749.
-
(2001)
JAMA
, vol.285
, pp. 2743-2749
-
-
Schiffmann, R.1
Kopp, J.B.2
Austin, H.A.3
-
7
-
-
3142554529
-
Long-term safety and efficacy of enzyme replacement therapy for Fabry disease
-
Wilcox W.R., Banikazemi M., Guffon N., et al. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet 2004, 75:65-74.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 65-74
-
-
Wilcox, W.R.1
Banikazemi, M.2
Guffon, N.3
-
8
-
-
33846908304
-
Agalsidase beta therapy for advanced Fabry disease: a randomized trial
-
Banikazemi M., Bultas J., Waldek S., et al. Agalsidase beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 2007, 146:77-86.
-
(2007)
Ann Intern Med
, vol.146
, pp. 77-86
-
-
Banikazemi, M.1
Bultas, J.2
Waldek, S.3
-
9
-
-
34248190164
-
Substained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease
-
Germain D.P., Waldek S., Banikazemi M., et al. Substained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol 2007, 18:1547-1557.
-
(2007)
J Am Soc Nephrol
, vol.18
, pp. 1547-1557
-
-
Germain, D.P.1
Waldek, S.2
Banikazemi, M.3
-
10
-
-
33745280137
-
High incidence of later-onset Fabry disease revealed by newborn screening
-
Spada M., Pagliardini S., Yasuda M., et al. High incidence of later-onset Fabry disease revealed by newborn screening. Am J Hum Genet 2006, 79:31-40.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 31-40
-
-
Spada, M.1
Pagliardini, S.2
Yasuda, M.3
-
11
-
-
77949893047
-
High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population
-
Lin H.Y., Chong K.W., Hsu J.H., et al. High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population. Circ Cardiovasc Genet 2009, 2:450-456.
-
(2009)
Circ Cardiovasc Genet
, vol.2
, pp. 450-456
-
-
Lin, H.Y.1
Chong, K.W.2
Hsu, J.H.3
-
12
-
-
73349136303
-
Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A)
-
Hwu W.L., Chien Y.H., Lee N.C., et al. Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). Hum Mutat 2009, 30:1397-1405.
-
(2009)
Hum Mutat
, vol.30
, pp. 1397-1405
-
-
Hwu, W.L.1
Chien, Y.H.2
Lee, N.C.3
-
13
-
-
84880616117
-
Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns-superiority of DNA-based to enzyme-based newborn screening for common mutations
-
Chien Y.H., Lee N.C., Chiang S.C., Desnick R.J., Hwu W.L. Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns-superiority of DNA-based to enzyme-based newborn screening for common mutations. Mol Med 2012, 18:780-784.
-
(2012)
Mol Med
, vol.18
, pp. 780-784
-
-
Chien, Y.H.1
Lee, N.C.2
Chiang, S.C.3
Desnick, R.J.4
Hwu, W.L.5
-
14
-
-
84873698552
-
Newborn screening for lysosomal storage disorders in Hungary
-
Wittmann J., Karg E., Turi S., et al. Newborn screening for lysosomal storage disorders in Hungary. JIMD Rep 2012, 6:117-125.
-
(2012)
JIMD Rep
, vol.6
, pp. 117-125
-
-
Wittmann, J.1
Karg, E.2
Turi, S.3
-
15
-
-
84884938343
-
Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A)
-
Liao H.C., Huang Y.H., Chen Y.J., et al. Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A). Clin Chim Acta 2013, 426:114-120.
-
(2013)
Clin Chim Acta
, vol.426
, pp. 114-120
-
-
Liao, H.C.1
Huang, Y.H.2
Chen, Y.J.3
-
16
-
-
84948722982
-
Angiokeratoma corporis diffusum and arteriovenous fistulas with dominant transmission in the absence of metabolic disorders
-
Calzavara-Pinton P.G., Colombi M., Carlino A., et al. Angiokeratoma corporis diffusum and arteriovenous fistulas with dominant transmission in the absence of metabolic disorders. Arch Dermatol 1995, 131:57-62.
-
(1995)
Arch Dermatol
, vol.131
, pp. 57-62
-
-
Calzavara-Pinton, P.G.1
Colombi, M.2
Carlino, A.3
-
17
-
-
0036917582
-
Small fiber dysfunction predominates in Fabry neuropathy
-
Dutsch M., Marthol H., Stemper B., et al. Small fiber dysfunction predominates in Fabry neuropathy. J Clin Neurophysiol 2002, 19:575-586.
-
(2002)
J Clin Neurophysiol
, vol.19
, pp. 575-586
-
-
Dutsch, M.1
Marthol, H.2
Stemper, B.3
-
18
-
-
25844464099
-
Evidence for motor axon depolarization in Fabry disease
-
Tan S.V., Lee P.J., Walters R.J., et al. Evidence for motor axon depolarization in Fabry disease. Muscle Nerve 2005, 32:548-551.
-
(2005)
Muscle Nerve
, vol.32
, pp. 548-551
-
-
Tan, S.V.1
Lee, P.J.2
Walters, R.J.3
-
19
-
-
83755184167
-
Small fibers in Fabry disease: baseline and follow-up data under enzyme replacement therapy
-
Üçeyler N., He L., Schönfeld D., et al. Small fibers in Fabry disease: baseline and follow-up data under enzyme replacement therapy. J Peripher Nerv Syst 2011, 16:304-314.
-
(2011)
J Peripher Nerv Syst
, vol.16
, pp. 304-314
-
-
Üçeyler, N.1
He, L.2
Schönfeld, D.3
-
21
-
-
18644382619
-
Ophthalmological manifestations of Fabry disease: a survey of patients at the Royal Melbourne Fabry disease treatment centre
-
Nguyen T.T., Gin T., Nicholls K., et al. Ophthalmological manifestations of Fabry disease: a survey of patients at the Royal Melbourne Fabry disease treatment centre. Clin Exp Ophthalmol 2005, 33:164-168.
-
(2005)
Clin Exp Ophthalmol
, vol.33
, pp. 164-168
-
-
Nguyen, T.T.1
Gin, T.2
Nicholls, K.3
-
22
-
-
41449100690
-
Prominence of glomerular and vascular changes in renal biopsies in children and adolescents with Fabry disease and microalbuminuria
-
Tøndel C., Bostad L., Laegreid L.M., Houge G., Svarstad E. Prominence of glomerular and vascular changes in renal biopsies in children and adolescents with Fabry disease and microalbuminuria. Clin Ther 2008, 30:S42.
-
(2008)
Clin Ther
, vol.30
, pp. S42
-
-
Tøndel, C.1
Bostad, L.2
Laegreid, L.M.3
Houge, G.4
Svarstad, E.5
-
23
-
-
79952192786
-
Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease
-
Najafian B., Svarstad E., Bostad L., et al. Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease. Kidney Int 2011, 79:663-670.
-
(2011)
Kidney Int
, vol.79
, pp. 663-670
-
-
Najafian, B.1
Svarstad, E.2
Bostad, L.3
-
24
-
-
0036122659
-
Natural history of Fabry renal disease: influence of α-galactosidase A activity and genetic mutations on clinical course
-
Branton M.H., Schiffmann R., Sabnis S.G., et al. Natural history of Fabry renal disease: influence of α-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore) 2002, 81:122-138.
-
(2002)
Medicine (Baltimore)
, vol.81
, pp. 122-138
-
-
Branton, M.H.1
Schiffmann, R.2
Sabnis, S.G.3
-
25
-
-
0034766525
-
Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males
-
MacDermot K.D., Holmes A., Miners A.H. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001, 38:750-760.
-
(2001)
J Med Genet
, vol.38
, pp. 750-760
-
-
MacDermot, K.D.1
Holmes, A.2
Miners, A.H.3
-
28
-
-
23044513293
-
Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy
-
Banikazemi M., Ullman T., Desnick R.J. Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy. Mol Genet Metab 2005, 85:255-259.
-
(2005)
Mol Genet Metab
, vol.85
, pp. 255-259
-
-
Banikazemi, M.1
Ullman, T.2
Desnick, R.J.3
-
29
-
-
0141464141
-
Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two consecutive hemizygous male patients
-
Germain D.P., Avan P., Chassaing A., et al. Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two consecutive hemizygous male patients. BMC Med Genet 2002, 3:10-20.
-
(2002)
BMC Med Genet
, vol.3
, pp. 10-20
-
-
Germain, D.P.1
Avan, P.2
Chassaing, A.3
-
30
-
-
33845884323
-
Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease
-
Ries M., Kim H.J., Zalewski C.K., et al. Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease. Brain 2007, 130:143-150.
-
(2007)
Brain
, vol.130
, pp. 143-150
-
-
Ries, M.1
Kim, H.J.2
Zalewski, C.K.3
-
31
-
-
0025049304
-
Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy
-
Elleder M., Bradova V., Smid F., et al. Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy. Virchows Arch A Pathol Anat Histol 1990, 417:449-455.
-
(1990)
Virchows Arch A Pathol Anat Histol
, vol.417
, pp. 449-455
-
-
Elleder, M.1
Bradova, V.2
Smid, F.3
-
32
-
-
0026099642
-
An atypical variant of Fabry's disease with manifestations confined to the myocardium
-
von Scheidt W., Eng C.M., Fitzmaurice T.F., et al. An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl J Med 1991, 324:395-399.
-
(1991)
N Engl J Med
, vol.324
, pp. 395-399
-
-
von Scheidt, W.1
Eng, C.M.2
Fitzmaurice, T.F.3
-
33
-
-
0029023150
-
An atypical variant of Fabry's disease in men with left ventricular hypertrophy
-
Nakao S., Takenaka T., Maeda M., et al. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 1995, 333:288-293.
-
(1995)
N Engl J Med
, vol.333
, pp. 288-293
-
-
Nakao, S.1
Takenaka, T.2
Maeda, M.3
-
34
-
-
12444319931
-
Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype
-
Nakao S., Kodama C., Takenaka T., et al. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. Kidney Int 2003, 64:801-807.
-
(2003)
Kidney Int
, vol.64
, pp. 801-807
-
-
Nakao, S.1
Kodama, C.2
Takenaka, T.3
-
35
-
-
0037177166
-
Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy
-
Sachdev B., Takenaka T., Teraguchi H., et al. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 2002, 105:1407-1411.
-
(2002)
Circulation
, vol.105
, pp. 1407-1411
-
-
Sachdev, B.1
Takenaka, T.2
Teraguchi, H.3
-
36
-
-
0038820858
-
Screening for Fabry disease in end-stage nephropathies
-
Spada M., Pagliardini S. Screening for Fabry disease in end-stage nephropathies. J Inherit Metab Dis 2002, 25(suppl 1):113.
-
(2002)
J Inherit Metab Dis
, vol.25
, pp. 113
-
-
Spada, M.1
Pagliardini, S.2
-
37
-
-
11144355110
-
Results of a nationwide screening for Anderson-Fabry disease among dialysis patients
-
Kotanko P., Kramar R., Devrnja D., et al. Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. J Am Soc Nephrol 2004, 15:1323-1329.
-
(2004)
J Am Soc Nephrol
, vol.15
, pp. 1323-1329
-
-
Kotanko, P.1
Kramar, R.2
Devrnja, D.3
-
38
-
-
0347989591
-
Fabry disease: renal involvement limited to podocyte pathology and proteinuria in a septuagenarian cardiac variant. Pathologic and therapeutic implications
-
Meehan S.M., Junsanto T., Rydel J.J., et al. Fabry disease: renal involvement limited to podocyte pathology and proteinuria in a septuagenarian cardiac variant. Pathologic and therapeutic implications. Am J Kidney Dis 2004, 43:164-171.
-
(2004)
Am J Kidney Dis
, vol.43
, pp. 164-171
-
-
Meehan, S.M.1
Junsanto, T.2
Rydel, J.J.3
-
39
-
-
7444265245
-
A novel α-galactosidase A mutant (M42L) identified in a renal variant of Fabry disease
-
Rosenthal D., Lien Y.H., Lager D., et al. A novel α-galactosidase A mutant (M42L) identified in a renal variant of Fabry disease. Am J Kidney Dis 2004, 44:85-89.
-
(2004)
Am J Kidney Dis
, vol.44
, pp. 85-89
-
-
Rosenthal, D.1
Lien, Y.H.2
Lager, D.3
-
40
-
-
77649086331
-
Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study-screening genetic conditions in Portuguese young stroke patients
-
PORTuguese Young STROKE Investigators
-
Baptista M.V., Ferreira S., Pinho-E-Melo T. Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study-screening genetic conditions in Portuguese young stroke patients. Stroke 2010, 41:431-436. PORTuguese Young STROKE Investigators.
-
(2010)
Stroke
, vol.41
, pp. 431-436
-
-
Baptista, M.V.1
Ferreira, S.2
Pinho-E-Melo, T.3
-
41
-
-
74049117508
-
Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke
-
Wozniak M.A., Kittner S.J., Tuhrim S., et al. Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke. Stroke 2010, 41:78-81.
-
(2010)
Stroke
, vol.41
, pp. 78-81
-
-
Wozniak, M.A.1
Kittner, S.J.2
Tuhrim, S.3
-
42
-
-
0001125489
-
The genetics of angiokeratoma corporis diffusum (Fabry's disease) and its linkage relations with the Xg locus
-
Opitz J.M., Stiles F.C., Wise D., et al. The genetics of angiokeratoma corporis diffusum (Fabry's disease) and its linkage relations with the Xg locus. Am J Hum Genet 1965, 17:325-342.
-
(1965)
Am J Hum Genet
, vol.17
, pp. 325-342
-
-
Opitz, J.M.1
Stiles, F.C.2
Wise, D.3
-
43
-
-
0034754467
-
Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females
-
MacDermot K.D., Holmes A., Miners A.H. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 2001, 38:769-775.
-
(2001)
J Med Genet
, vol.38
, pp. 769-775
-
-
MacDermot, K.D.1
Holmes, A.2
Miners, A.H.3
-
44
-
-
34547731457
-
Prenatal diagnosis of Fabry disease
-
Desnick R.J. Prenatal diagnosis of Fabry disease. Prenatal Diagn 2007, 27:693-694.
-
(2007)
Prenatal Diagn
, vol.27
, pp. 693-694
-
-
Desnick, R.J.1
-
45
-
-
42949119819
-
Elevated globotriaosylsphingosine is a hallmark of Fabry disease
-
Aerts J.M., Groener J.E., Kuiper S., et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A 2008, 105:2812-2817.
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 2812-2817
-
-
Aerts, J.M.1
Groener, J.E.2
Kuiper, S.3
-
46
-
-
78650275925
-
Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy
-
van Breemen M.J., Rombach S.M., Dekker N., et al. Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy. Biochim Biophys Acta 1812, 2011:70-76.
-
(1812)
Biochim Biophys Acta
, vol.2011
, pp. 70-76
-
-
van Breemen, M.J.1
Rombach, S.M.2
Dekker, N.3
-
47
-
-
0031901350
-
Human α-galactosidase A: characterization of the N-linked oligosaccharides on the intracellular and secreted glycoforms overexpressed by Chinese hamster ovary cells
-
Matsuura F., Ohta M., Ioannou Y.A., et al. Human α-galactosidase A: characterization of the N-linked oligosaccharides on the intracellular and secreted glycoforms overexpressed by Chinese hamster ovary cells. Glycobiology 1998, 8:329-339.
-
(1998)
Glycobiology
, vol.8
, pp. 329-339
-
-
Matsuura, F.1
Ohta, M.2
Ioannou, Y.A.3
-
48
-
-
0023223107
-
Synthesis and processing of alpha-galactosidase A in human fibroblasts: evidence for different mutations in Fabry disease
-
Lemansky P., Bishop D.F., Desnick R.J., Hasilik A., von Figura K. Synthesis and processing of alpha-galactosidase A in human fibroblasts: evidence for different mutations in Fabry disease. J Biol Chem 1987, 262:2062-2065.
-
(1987)
J Biol Chem
, vol.262
, pp. 2062-2065
-
-
Lemansky, P.1
Bishop, D.F.2
Desnick, R.J.3
Hasilik, A.4
von Figura, K.5
-
49
-
-
0024566949
-
Nucleotide sequence of the human α-galactosidase A gene
-
Kornreich R., Desnick R.J., Bishop D.F. Nucleotide sequence of the human α-galactosidase A gene. Nucl Acids Res 1989, 17:3301-3302.
-
(1989)
Nucl Acids Res
, vol.17
, pp. 3301-3302
-
-
Kornreich, R.1
Desnick, R.J.2
Bishop, D.F.3
-
50
-
-
0032526093
-
Human α-galactosidase A: glycosylation site 3 is essential for enzyme solubility
-
Ioannou Y.A., Zeidner K.M., Grace M.E., et al. Human α-galactosidase A: glycosylation site 3 is essential for enzyme solubility. Biochem J 1998, 332:789-797.
-
(1998)
Biochem J
, vol.332
, pp. 789-797
-
-
Ioannou, Y.A.1
Zeidner, K.M.2
Grace, M.E.3
-
51
-
-
0142185106
-
Fabry disease: D313Y is an α-galactosidase A sequence variant that causes pseudodeficient activity in plasma
-
Froissart R., Guffon N., Vanier M.T., et al. Fabry disease: D313Y is an α-galactosidase A sequence variant that causes pseudodeficient activity in plasma. Mol Genet Metab 2003, 80:307-314.
-
(2003)
Mol Genet Metab
, vol.80
, pp. 307-314
-
-
Froissart, R.1
Guffon, N.2
Vanier, M.T.3
-
52
-
-
0345732648
-
Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele
-
Yasuda M., Shabbeer J., Benson S.D., et al. Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele. Hum Mutat 2003, 22:486-492.
-
(2003)
Hum Mutat
, vol.22
, pp. 486-492
-
-
Yasuda, M.1
Shabbeer, J.2
Benson, S.D.3
-
53
-
-
84862797726
-
Fabry disease: biochemical, pathological and structural studies of the α-galactosidase A with E66Q amino acid substitution
-
Togawa T., Tsukimura T., Kodama T., et al. Fabry disease: biochemical, pathological and structural studies of the α-galactosidase A with E66Q amino acid substitution. Mol Genet Metab 2012, 105:615-620.
-
(2012)
Mol Genet Metab
, vol.105
, pp. 615-620
-
-
Togawa, T.1
Tsukimura, T.2
Kodama, T.3
-
54
-
-
77957592518
-
Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns
-
Lee B.H., Heo S.H., Kim G.H., et al. Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns. J Hum Genet 2010, 55:512-517.
-
(2010)
J Hum Genet
, vol.55
, pp. 512-517
-
-
Lee, B.H.1
Heo, S.H.2
Kim, G.H.3
-
55
-
-
0041418254
-
Use of gabapentin to reduce chronic neuropathic pain in Fabry disease
-
Ries M., Mengel E., Kutschke G., et al. Use of gabapentin to reduce chronic neuropathic pain in Fabry disease. J Inherit Metab Dis 2003, 26:413-414.
-
(2003)
J Inherit Metab Dis
, vol.26
, pp. 413-414
-
-
Ries, M.1
Mengel, E.2
Kutschke, G.3
-
56
-
-
0036145366
-
Patients with Fabry disease on dialysis in the United States
-
Thadhani R., Wolf M., West M.L., et al. Patients with Fabry disease on dialysis in the United States. Kidney Int 2002, 61:249-255.
-
(2002)
Kidney Int
, vol.61
, pp. 249-255
-
-
Thadhani, R.1
Wolf, M.2
West, M.L.3
-
57
-
-
0035537930
-
Long-term survival of patients with renal transplantation in Fabry's disease
-
Mignani R., Gerra D., Maldini L., et al. Long-term survival of patients with renal transplantation in Fabry's disease. Contrib Nephrol 2001, 229-233.
-
(2001)
Contrib Nephrol
, pp. 229-233
-
-
Mignani, R.1
Gerra, D.2
Maldini, L.3
-
58
-
-
12644253826
-
Report on management of renal failure in Europe, XXVI, 1995. Rare diseases in renal replacement therapy in the ERA-EDTA Registry
-
Tsakiris D., Simpson H.K., Jones E.H., et al. Report on management of renal failure in Europe, XXVI, 1995. Rare diseases in renal replacement therapy in the ERA-EDTA Registry. Nephrol Dial Transplant 1996, 11:4-20.
-
(1996)
Nephrol Dial Transplant
, vol.11
, pp. 4-20
-
-
Tsakiris, D.1
Simpson, H.K.2
Jones, E.H.3
-
59
-
-
0035163539
-
Fabry disease: preclinical studies demonstrate the effectiveness of α-galactosidase A replacement in enzyme-deficient mice
-
Ioannou Y.A., Zeidner K.M., Gordon R.E., et al. Fabry disease: preclinical studies demonstrate the effectiveness of α-galactosidase A replacement in enzyme-deficient mice. Am J Hum Genet 2001, 68:14-25.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 14-25
-
-
Ioannou, Y.A.1
Zeidner, K.M.2
Gordon, R.E.3
-
60
-
-
0013192938
-
A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease
-
Lee K., Jin X., Zhang K., et al. A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease. Glycobiology 2003, 13:305-313.
-
(2003)
Glycobiology
, vol.13
, pp. 305-313
-
-
Lee, K.1
Jin, X.2
Zhang, K.3
-
61
-
-
33645218156
-
Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fibroblasts and Fabry mice
-
Sakuraba H., Murata-Ohsawa M., Kawashima I., et al. Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fibroblasts and Fabry mice. J Hum Genet 2006, 51:180-188.
-
(2006)
J Hum Genet
, vol.51
, pp. 180-188
-
-
Sakuraba, H.1
Murata-Ohsawa, M.2
Kawashima, I.3
-
62
-
-
84894423242
-
Comparative study on mannose 6-phosphate residue contents of recombinant lysosomal enzymes
-
Togawa T., Takada M., Aizawa Y., Tsukimura T., Chiba Y., Sakuraba H. Comparative study on mannose 6-phosphate residue contents of recombinant lysosomal enzymes. Mol Genet Metab 2014, 111:369-373.
-
(2014)
Mol Genet Metab
, vol.111
, pp. 369-373
-
-
Togawa, T.1
Takada, M.2
Aizawa, Y.3
Tsukimura, T.4
Chiba, Y.5
Sakuraba, H.6
-
63
-
-
4344671895
-
Enzyme replacement therapy administered during hemodialysis in patients with Fabry disease
-
Kosch M., Koch H.G., Oliveira J.P., et al. Enzyme replacement therapy administered during hemodialysis in patients with Fabry disease. Kidney Int 2004, 66:1279-1282.
-
(2004)
Kidney Int
, vol.66
, pp. 1279-1282
-
-
Kosch, M.1
Koch, H.G.2
Oliveira, J.P.3
-
64
-
-
20544452974
-
Enzyme replacement therapy in Fabry disease patients undergoing dialysis: effects on quality of life and organ involvement
-
Pisani A., Spinelli L., Sabbatini M., et al. Enzyme replacement therapy in Fabry disease patients undergoing dialysis: effects on quality of life and organ involvement. Am J Kidney Dis 2005, 46:120-127.
-
(2005)
Am J Kidney Dis
, vol.46
, pp. 120-127
-
-
Pisani, A.1
Spinelli, L.2
Sabbatini, M.3
-
65
-
-
84871906107
-
Agalsidase benefits renal histology in young patients with Fabry disease
-
Tøndel C., Bostad L., Larsen K.K., et al. Agalsidase benefits renal histology in young patients with Fabry disease. J Am Soc Nephrol 2013, 24:137-148.
-
(2013)
J Am Soc Nephrol
, vol.24
, pp. 137-148
-
-
Tøndel, C.1
Bostad, L.2
Larsen, K.K.3
-
66
-
-
0033018496
-
Accelerated transport and maturation of lysosomal α-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor
-
Fan J.Q., Ishii S., Asano N., et al. Accelerated transport and maturation of lysosomal α-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor. Nat Med 1999, 5:112-115.
-
(1999)
Nat Med
, vol.5
, pp. 112-115
-
-
Fan, J.Q.1
Ishii, S.2
Asano, N.3
-
67
-
-
0043235841
-
A contradictory treatment for lysosomal storage disorders: inhibitors enhance mutant enzyme activity
-
Fan J.Q. A contradictory treatment for lysosomal storage disorders: inhibitors enhance mutant enzyme activity. Trends Pharmacol Sci 2003, 24:355-360.
-
(2003)
Trends Pharmacol Sci
, vol.24
, pp. 355-360
-
-
Fan, J.Q.1
-
68
-
-
7044284796
-
Transgenic mouse expressing human mutant alpha-galactosidase A in an endogenous enzyme deficient background: a biochemical animal model for studying active-site specific chaperone therapy for Fabry disease
-
Ishii S., Yoshioka H., Mannen K., et al. Transgenic mouse expressing human mutant alpha-galactosidase A in an endogenous enzyme deficient background: a biochemical animal model for studying active-site specific chaperone therapy for Fabry disease. Biochim Biophys Acta 2004, 1690:250-257.
-
(2004)
Biochim Biophys Acta
, vol.1690
, pp. 250-257
-
-
Ishii, S.1
Yoshioka, H.2
Mannen, K.3
-
69
-
-
74149090458
-
The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease
-
Khanna R., Soska R., Lun Y., et al. The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease. Mol Ther 2010, 18:23-33.
-
(2010)
Mol Ther
, vol.18
, pp. 23-33
-
-
Khanna, R.1
Soska, R.2
Lun, Y.3
-
70
-
-
0035811674
-
Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy
-
Frustaci A., Chimenti C., Ricci R., et al. Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy. N Engl J Med 2001, 345:25-32.
-
(2001)
N Engl J Med
, vol.345
, pp. 25-32
-
-
Frustaci, A.1
Chimenti, C.2
Ricci, R.3
-
71
-
-
84859439223
-
Co-administration with the pharmacological chaperone AT1001 increases recombinant human α-galactosidase A tissue uptake and improves substrate reduction in Fabry mice
-
Benjamin E.R., Khanna R., Schilling A., et al. Co-administration with the pharmacological chaperone AT1001 increases recombinant human α-galactosidase A tissue uptake and improves substrate reduction in Fabry mice. Mol Ther 2012, 20:717-726.
-
(2012)
Mol Ther
, vol.20
, pp. 717-726
-
-
Benjamin, E.R.1
Khanna, R.2
Schilling, A.3
-
72
-
-
77957551053
-
Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study
-
Lukina E., Watman N., Arreguin E.A., et al. Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study. Blood 2010, 116:4095-4098.
-
(2010)
Blood
, vol.116
, pp. 4095-4098
-
-
Lukina, E.1
Watman, N.2
Arreguin, E.A.3
-
74
-
-
33847213924
-
Correction of the biochemical and functional deficits in Fabry mice following AAV8-mediated hepatic expression of α-galactosidase A
-
Ziegler R.J., Cherry M., Barbon C.M., et al. Correction of the biochemical and functional deficits in Fabry mice following AAV8-mediated hepatic expression of α-galactosidase A. Mol Ther 2007, 15:492-500.
-
(2007)
Mol Ther
, vol.15
, pp. 492-500
-
-
Ziegler, R.J.1
Cherry, M.2
Barbon, C.M.3
-
75
-
-
33846544543
-
Efficient correction of Fabry mice and patient cells mediated by lentiviral transduction of hematopoietic stem/progenitor cells
-
Yoshimitsu M., Higuchi K., Ramsubir S., et al. Efficient correction of Fabry mice and patient cells mediated by lentiviral transduction of hematopoietic stem/progenitor cells. Gene Ther 2007, 14:256-265.
-
(2007)
Gene Ther
, vol.14
, pp. 256-265
-
-
Yoshimitsu, M.1
Higuchi, K.2
Ramsubir, S.3
-
76
-
-
84980085880
-
A case of angiokeratoma
-
Anderson W. A case of angiokeratoma. Br J Dermatol 1898, 10:113-117.
-
(1898)
Br J Dermatol
, vol.10
, pp. 113-117
-
-
Anderson, W.1
-
77
-
-
34447607076
-
Ein beitrag zur kenntnis der Purpura haemorrhagica nodularis (Purpura papulosa hemorrhagica Hebrae)
-
Fabry J. Ein beitrag zur kenntnis der Purpura haemorrhagica nodularis (Purpura papulosa hemorrhagica Hebrae). Arch Dermatol Syph 1898, 43:187-200.
-
(1898)
Arch Dermatol Syph
, vol.43
, pp. 187-200
-
-
Fabry, J.1
|