-
1
-
-
0034943172
-
Enhanced endothelium-dependent vasodilation in Fabry disease
-
Altarescu G, Moore DF, Pursley R, Campia U, Goldstein S, Bryant M, et al. Enhanced endothelium-dependent vasodilation in Fabry disease. Stroke 2001a; 32: 1559-62.
-
(2001)
Stroke
, vol.32
, pp. 1559-1562
-
-
Altarescu, G.1
Moore, D.F.2
Pursley, R.3
Campia, U.4
Goldstein, S.5
Bryant, M.6
-
2
-
-
0034924174
-
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease
-
Altarescu GM, Goldfarb LG, Park KY, Kaneski C, Jeffries N, Litvak S, et al. Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease. Clin Genet 2001b; 60: 46-51.
-
(2001)
Clin Genet
, vol.60
, pp. 46-51
-
-
Altarescu, G.M.1
Goldfarb, L.G.2
Park, K.Y.3
Kaneski, C.4
Jeffries, N.5
Litvak, S.6
-
5
-
-
0018251339
-
Neurological manifestations of Fabry disease in female carriers
-
Bird TD, Lagunoff D. Neurological manifestations of Fabry disease in female carriers. Ann Neurol 1978; 4: 537-40.
-
(1978)
Ann Neurol
, vol.4
, pp. 537-540
-
-
Bird, T.D.1
Lagunoff, D.2
-
6
-
-
0014216741
-
Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency
-
Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med 1967; 276: 1163-7.
-
(1967)
N Engl J Med
, vol.276
, pp. 1163-1167
-
-
Brady, R.O.1
Gal, A.E.2
Bradley, R.M.3
Martensson, E.4
Warshaw, A.L.5
Laster, L.6
-
7
-
-
0036122659
-
Natural history of Fabry renal disease: Influence of alpha-galactosidase A activity and genetic mutations on clinical course
-
Branton MH, Schiffmann R, Sabnis SG, Murray GJ, Quirk JM, Altarescu G, et al. Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore) 2002; 81: 122-38.
-
(2002)
Medicine (Baltimore)
, vol.81
, pp. 122-138
-
-
Branton, M.H.1
Schiffmann, R.2
Sabnis, S.G.3
Murray, G.J.4
Quirk, J.M.5
Altarescu, G.6
-
8
-
-
0033950217
-
Profile of endothelial and leukocyte activation in Fabry patients
-
DeGraba T, Azhar S, Dignat-George F, Brown E, Boutiere B, Altarescu G, et al. Profile of endothelial and leukocyte activation in Fabry patients. Ann Neurol 2000; 47: 229-33.
-
(2000)
Ann Neurol
, vol.47
, pp. 229-233
-
-
DeGraba, T.1
Azhar, S.2
Dignat-George, F.3
Brown, E.4
Boutiere, B.5
Altarescu, G.6
-
9
-
-
0028922890
-
Confidence limits for maximum word-recognition scores
-
Dubno JR, Lee FS, Klein AJ, Matthews LJ, Lam CF. Confidence limits for maximum word-recognition scores. J Speech Hear Res 1995; 38: 490-502.
-
(1995)
J Speech Hear Res
, vol.38
, pp. 490-502
-
-
Dubno, J.R.1
Lee, F.S.2
Klein, A.J.3
Matthews, L.J.4
Lam, C.F.5
-
10
-
-
0032992784
-
Quantitative sensation testing in epidemiological and therapeutic studies of peripheral neuropathy
-
Dyck PJ, O'Brien PC. Quantitative sensation testing in epidemiological and therapeutic studies of peripheral neuropathy. Muscle Nerve 1999; 22: 659-62.
-
(1999)
Muscle Nerve
, vol.22
, pp. 659-662
-
-
Dyck, P.J.1
O'Brien, P.C.2
-
11
-
-
0020520798
-
Involvement of dorsal root ganglia in Fabry's disease
-
Gadoth N, Sandbank U. Involvement of dorsal root ganglia in Fabry's disease. J Med Genet 1983; 20: 309-12.
-
(1983)
J Med Genet
, vol.20
, pp. 309-312
-
-
Gadoth, N.1
Sandbank, U.2
-
12
-
-
0141464141
-
Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: An investigation of twenty-two hemizygous male patients
-
Germain DP, Avan P, Chassaing A, Bonfils P. Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients. BMC Med Genet 2002; 3: 10.
-
(2002)
BMC Med Genet
, vol.3
, pp. 10
-
-
Germain, D.P.1
Avan, P.2
Chassaing, A.3
Bonfils, P.4
-
13
-
-
0942298941
-
Hearing loss in Fabry disease: The effect of agalsidase alfa replacement therapy
-
Hajioff D, Enever Y, Quiney R, Zuckerman J, Mackermot K, Mehta A. Hearing loss in Fabry disease: the effect of agalsidase alfa replacement therapy. J Inherit Metab Dis 2003; 26: 787-94.
-
(2003)
J Inherit Metab Dis
, vol.26
, pp. 787-794
-
-
Hajioff, D.1
Enever, Y.2
Quiney, R.3
Zuckerman, J.4
Mackermot, K.5
Mehta, A.6
-
15
-
-
0018396130
-
Fabry disease: Clinical, biochemical and electron microscopical studies (author's translation)]
-
Klug H, Zabel R, Evers U. [Fabry disease: clinical, biochemical and electron microscopical studies (author's translation)]. Dermatol Monatsschr 1979; 165: 46-54.
-
(1979)
Dermatol Monatsschr
, vol.165
, pp. 46-54
-
-
Klug, H.1
Zabel, R.2
Evers, U.3
-
16
-
-
0018264552
-
Purification and properties of the two major isozymes of alpha-galactosidase from human placenta
-
Kusiak JW, Quirk JM, Brady RO. Purification and properties of the two major isozymes of alpha-galactosidase from human placenta. J Biol Chem 1978; 253: 184-90.
-
(1978)
J Biol Chem
, vol.253
, pp. 184-190
-
-
Kusiak, J.W.1
Quirk, J.M.2
Brady, R.O.3
-
17
-
-
0034754467
-
Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 60 obligate carrier females
-
MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 2001a; 38: 769-75.
-
(2001)
J Med Genet
, vol.38
, pp. 769-775
-
-
MacDermot, K.D.1
Holmes, A.2
Miners, A.H.3
-
18
-
-
0034766525
-
Anderson-Fabry disease: Clinical manifestations, impact of disease in a cohort of 98 hemizygous males
-
MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations, impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001b; 38: 750-60.
-
(2001)
J Med Genet
, vol.38
, pp. 750-760
-
-
MacDermot, K.D.1
Holmes, A.2
Miners, A.H.3
-
19
-
-
0023598468
-
Screening tympanometry: Criteria for medical referral
-
Margolis RH, Heller JW. Screening tympanometry: criteria for medical referral. Audiology 1987; 26: 197-208.
-
(1987)
Audiology
, vol.26
, pp. 197-208
-
-
Margolis, R.H.1
Heller, J.W.2
-
20
-
-
1842586553
-
Recommendations for the description of genetic and audiological data for families with nonsyndromic hereditary hearing impairment
-
Mazzoli M, van Camp G, Newton V, Giarbini N, Declau F, Parving A. Recommendations for the description of genetic and audiological data for families with nonsyndromic hereditary hearing impairment. Audiol Med 2003; 1: 148-50.
-
(2003)
Audiol Med
, vol.1
, pp. 148-150
-
-
Mazzoli, M.1
van Camp, G.2
Newton, V.3
Giarbini, N.4
Declau, F.5
Parving, A.6
-
21
-
-
0029842533
-
Age- and gender-specific reference ranges for hearing level and longitudinal changes in hearing level
-
Morrell CH, Gordon-Salant S, Pearson JD, Brant LJ, Fozard JL. Age- and gender-specific reference ranges for hearing level and longitudinal changes in hearing level. J Acoust Soc Am 1996; 100: 1949-67.
-
(1996)
J Acoust Soc Am
, vol.100
, pp. 1949-1967
-
-
Morrell, C.H.1
Gordon-Salant, S.2
Pearson, J.D.3
Brant, L.J.4
Fozard, J.L.5
-
22
-
-
18244397953
-
Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement
-
Moore DF, Altarescu G, Ling GS, Jeffries N, Frei KP, Weibel T, et al. Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. Stroke 2002; 33: 525-31.
-
(2002)
Stroke
, vol.33
, pp. 525-531
-
-
Moore, D.F.1
Altarescu, G.2
Ling, G.S.3
Jeffries, N.4
Frei, K.P.5
Weibel, T.6
-
23
-
-
0347123263
-
White matter lesions in Fabry disease occur in 'prior' selectively hypometabolic and hyperperfused brain regions
-
Moore DF, Altarescu G, Barker WC, Patronas NJ, Herscovitch P, Schiffmann R. White matter lesions in Fabry disease occur in 'prior' selectively hypometabolic and hyperperfused brain regions. Brain Res Bull 2003; 62: 231-40.
-
(2003)
Brain Res Bull
, vol.62
, pp. 231-240
-
-
Moore, D.F.1
Altarescu, G.2
Barker, W.C.3
Patronas, N.J.4
Herscovitch, P.5
Schiffmann, R.6
-
24
-
-
0020083541
-
Pathophysiologic and ultrastructural basis for intestinal symptoms in Fabry's disease
-
O'Brien BD, Shnitka TK, McDougall R, Walker K, Costopoulos L, Lentle B, et al. Pathophysiologic and ultrastructural basis for intestinal symptoms in Fabry's disease. Gastroenterology 1982; 82: 957-62.
-
(1982)
Gastroenterology
, vol.82
, pp. 957-962
-
-
O'Brien, B.D.1
Shnitka, T.K.2
McDougall, R.3
Walker, K.4
Costopoulos, L.5
Lentle, B.6
-
25
-
-
0242487692
-
The early clinical phenotype of Fabry disease: A study on 35 European children and adolescents
-
Ries M, Ramaswami U, Parini R, Lindblad B, Whybra C, Willers I, et al. The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents. Eur J Pediatr 2003; 162: 767-72.
-
(2003)
Eur J Pediatr
, vol.162
, pp. 767-772
-
-
Ries, M.1
Ramaswami, U.2
Parini, R.3
Lindblad, B.4
Whybra, C.5
Willers, I.6
-
26
-
-
20344382763
-
Pediatric Fabry disease
-
Ries M, Gupta S, Moore DF, Sachdev V, Quirk JM, Murray GJ, et al. Pediatric Fabry disease. Pediatrics 2005; 115: e344-55.
-
(2005)
Pediatrics
, vol.115
-
-
Ries, M.1
Gupta, S.2
Moore, D.F.3
Sachdev, V.4
Quirk, J.M.5
Murray, G.J.6
-
27
-
-
33749067655
-
Enzyme replacement therapy with agalsidase alfa in children with Fabry disease
-
Ries M, Clarke JTR, Whybra C, Timmons M, Robinson C, Schlaggar BL, et al. Enzyme replacement therapy with agalsidase alfa in children with Fabry disease. Pediatrics 2006; 118: 924-32.
-
(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
-
29
-
-
0344443401
-
Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease
-
Schiffmann R, Floeter MK, Dambrosia JM, Gupta S, Moore DF, Sharabi Y, et al. Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease. Muscle Nerve 2003; 28: 703-10.
-
(2003)
Muscle Nerve
, vol.28
, pp. 703-710
-
-
Schiffmann, R.1
Floeter, M.K.2
Dambrosia, J.M.3
Gupta, S.4
Moore, D.F.5
Sharabi, Y.6
-
30
-
-
0035988269
-
Renal ultrastructural findings in Anderson-Fabry disease
-
Sessa A, Toson A, Nebuloni M, Pallotti F, Giordano F, Battini G, et al. Renal ultrastructural findings in Anderson-Fabry disease. J Nephrol 2002; 15: 109-12.
-
(2002)
J Nephrol
, vol.15
, pp. 109-112
-
-
Sessa, A.1
Toson, A.2
Nebuloni, M.3
Pallotti, F.4
Giordano, F.5
Battini, G.6
-
31
-
-
0019861728
-
The relationship between magnitude of hearing lossandacousticreflexthresholdlevels
-
Silman S, Gelfand SA. The relationship between magnitude of hearing lossandacousticreflexthresholdlevels. J Speech Hear Disord 1981; 46: 312-6.
-
(1981)
J Speech Hear Disord
, vol.46
, pp. 312-316
-
-
Silman, S.1
Gelfand, S.A.2
-
32
-
-
0242391661
-
Prevalence and characteristics of tinnitus in older adults: The Blue Mountains Hearing Study
-
Sindhusake D, Mitchell P, Newall P, Golding M, Rochtchina E, Rubin G. Prevalence and characteristics of tinnitus in older adults: the Blue Mountains Hearing Study. Int J Audiol 2003; 42: 289-94.
-
(2003)
Int J Audiol
, vol.42
, pp. 289-294
-
-
Sindhusake, D.1
Mitchell, P.2
Newall, P.3
Golding, M.4
Rochtchina, E.5
Rubin, G.6
|