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Volumn 155, Issue 4 SUPPL., 2009, Pages

Guidelines to Diagnosis and Monitoring of Fabry Disease and Review of Treatment Experiences

(21)  Martins, Ana Maria a   D'Almeida, Vânia a   Kyosen, Sandra Obikawa a   Takata, Edna Tiemi a   Delgado, Alvimar Gonçalves b   Barbosa Ferreira Gonçalves, Ângela Maria c   Benetti Filho, Caio César d   Filho, Dino Martini e   Biagini, Gilson f   Pimentel, Helena g   Abensur, Hugo h   Guimarães, Humberto Cenci i   Gomes, Jaelson Guilhem j   Neto, José Sobral k   Dias D'Almeida, Luiz Octávio l   Carvalho, Luiz Roberto m   Harouche, Maria Beatriz n   Jacometti Maldonado, Maria Cristina o   Nascimento, Osvaldo J M n   dos Santos Montoril, Paulo Sergio p   more..


Author keywords

[No Author keywords available]

Indexed keywords

ACETYLSALICYLIC ACID; AGALSIDASE BETA; ALPHA GALACTOSIDASE; AMITRIPTYLINE; CARBAMAZEPINE; DNA; EYE DROPS; GABAPENTIN; GLOBOTRIAOSYLCERAMIDE; IMMUNOGLOBULIN G; NONSTEROID ANTIINFLAMMATORY AGENT; NORTRIPTYLINE; OPIATE; PHENYTOIN;

EID: 70349187343     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2009.07.003     Document Type: Article
Times cited : (37)

References (128)
  • 1
    • 0000889058 scopus 로고    scopus 로고
    • Alpha-Galactosidase A deficiency: Fabry disease
    • Scriver CR B.A., Sly W.S., and Valle D. (Eds), McGraw-Hill, New York, NY
    • Desnick R., Ioannou Y., and Eng C. Alpha-Galactosidase A deficiency: Fabry disease. In: Scriver CR B.A., Sly W.S., and Valle D. (Eds). The Metabolic and Molecular Bases of Inherited Disease. 8th ed (2001), McGraw-Hill, New York, NY 3733-3774
    • (2001) The Metabolic and Molecular Bases of Inherited Disease. 8th ed , pp. 3733-3774
    • Desnick, R.1    Ioannou, Y.2    Eng, C.3
  • 2
    • 33645781485 scopus 로고    scopus 로고
    • Barba Romero MA, Hughes DA, Kampmann C, Beck M. Natural history of Fabry disease in females in the Fabry Outcome Survey
    • Deegan P.B., and Baehner A.F. Barba Romero MA, Hughes DA, Kampmann C, Beck M. Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet 43 (2006) 347-352
    • (2006) J Med Genet , vol.43 , pp. 347-352
    • Deegan, P.B.1    Baehner, A.F.2
  • 3
    • 33846265851 scopus 로고    scopus 로고
    • Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life
    • Wang R.Y., Lelis A., Mirocha J., and Wilcox W.R. Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet Med 9 (2007) 34-45
    • (2007) Genet Med , vol.9 , pp. 34-45
    • Wang, R.Y.1    Lelis, A.2    Mirocha, J.3    Wilcox, W.R.4
  • 5
    • 12444319931 scopus 로고    scopus 로고
    • Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype
    • Nakao S., Kodama C., Takenaka T., Tanaka A., Yasumoto Y., Yoshida A., et al. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. Kidney Int 64 (2003) 801-807
    • (2003) Kidney Int , vol.64 , pp. 801-807
    • Nakao, S.1    Kodama, C.2    Takenaka, T.3    Tanaka, A.4    Yasumoto, Y.5    Yoshida, A.6
  • 6
  • 7
    • 84980085880 scopus 로고
    • A case of "angiokeratoma"
    • Anderson W. A case of "angiokeratoma". Br J Dermatol 10 (1898) 113-117
    • (1898) Br J Dermatol , vol.10 , pp. 113-117
    • Anderson, W.1
  • 8
    • 34447607076 scopus 로고
    • Ein Beitrag zur Kenntnis der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae)
    • Fabry J. Ein Beitrag zur Kenntnis der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae). Arch Dermatol Syphilis 43 (1898) 187-200
    • (1898) Arch Dermatol Syphilis , vol.43 , pp. 187-200
    • Fabry, J.1
  • 9
    • 78651001239 scopus 로고
    • Angiokeratoma corporis diffusum (universale) Fabry, as a sign of an unknown internal disease: two autopsy reports
    • Pompen A., Ruiter M., and Wyers H. Angiokeratoma corporis diffusum (universale) Fabry, as a sign of an unknown internal disease: two autopsy reports. Acta Med Scand 128 (1947) 234-255
    • (1947) Acta Med Scand , vol.128 , pp. 234-255
    • Pompen, A.1    Ruiter, M.2    Wyers, H.3
  • 10
    • 0000368888 scopus 로고
    • Zur Diagnostik des Angiokeratoma corporis diffusum Fabry mit cardio-vasorenalem Symptomenkomplex
    • Scriba K. Zur Diagnostik des Angiokeratoma corporis diffusum Fabry mit cardio-vasorenalem Symptomenkomplex. Verh Dtsch Ges Pathol 34 (1950) 221
    • (1950) Verh Dtsch Ges Pathol , vol.34 , pp. 221
    • Scriba, K.1
  • 11
    • 34250907258 scopus 로고
    • Zur Diagnostik des Angiokeratoma corporis diffusum Fabry mit cardio-vasorenalem Symptomenkomplex als posphatidspeicherungskrankheit durch Probeexcision der Haut
    • Hornbostel H., and Scriba K. Zur Diagnostik des Angiokeratoma corporis diffusum Fabry mit cardio-vasorenalem Symptomenkomplex als posphatidspeicherungskrankheit durch Probeexcision der Haut. Klin Wochenschr 31 (1953) 68
    • (1953) Klin Wochenschr , vol.31 , pp. 68
    • Hornbostel, H.1    Scriba, K.2
  • 12
    • 0001089467 scopus 로고
    • Fabry's disease: classification as a sphingolipidosis and partial characterization of a novel glycolipid
    • Sweeley C., and Klionsky B. Fabry's disease: classification as a sphingolipidosis and partial characterization of a novel glycolipid. J Biol Chem 238 (1963) 3148-3150
    • (1963) J Biol Chem , vol.238 , pp. 3148-3150
    • Sweeley, C.1    Klionsky, B.2
  • 13
    • 0001767013 scopus 로고
    • Inborn lysosomal diseases
    • Hers H. Inborn lysosomal diseases. Gastroenterology 48 (1965) 625-633
    • (1965) Gastroenterology , vol.48 , pp. 625-633
    • Hers, H.1
  • 14
    • 0014102272 scopus 로고
    • Enzymatic abnormalities in diseases of sphingolipid metabolism
    • Brady R.O. Enzymatic abnormalities in diseases of sphingolipid metabolism. Clin Chem 13 (1967) 565-577
    • (1967) Clin Chem , vol.13 , pp. 565-577
    • Brady, R.O.1
  • 15
    • 0015915183 scopus 로고
    • Replacement therapy for inherited enzyme deficiency: use of purified ceramidetrihexosidase in Fabry's disease
    • Brady R.O., Tallman J.F., Johnson W.G., Gal A.E., Leahy W.R., Quirk J.M., et al. Replacement therapy for inherited enzyme deficiency: use of purified ceramidetrihexosidase in Fabry's disease. N Engl J Med 289 (1973) 9-14
    • (1973) N Engl J Med , vol.289 , pp. 9-14
    • Brady, R.O.1    Tallman, J.F.2    Johnson, W.G.3    Gal, A.E.4    Leahy, W.R.5    Quirk, J.M.6
  • 16
    • 0008548181 scopus 로고
    • Enzyme therapy in Fabry disease: differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymes
    • Desnick R.J., Dean K.J., Grabowski G., Bishop D.F., and Sweeley C.C. Enzyme therapy in Fabry disease: differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymes. Proc Natl Acad Sci U S A 76 (1979) 5326-5330
    • (1979) Proc Natl Acad Sci U S A , vol.76 , pp. 5326-5330
    • Desnick, R.J.1    Dean, K.J.2    Grabowski, G.3    Bishop, D.F.4    Sweeley, C.C.5
  • 17
    • 0014932679 scopus 로고
    • Enzyme replacement in Fabry's disease, an inborn error of metabolism
    • Mapes C.A., Anderson R.L., Sweeley C.C., Desnick R.J., and Krivit W. Enzyme replacement in Fabry's disease, an inborn error of metabolism. Science 169 (1970) 987-989
    • (1970) Science , vol.169 , pp. 987-989
    • Mapes, C.A.1    Anderson, R.L.2    Sweeley, C.C.3    Desnick, R.J.4    Krivit, W.5
  • 18
    • 38849126803 scopus 로고    scopus 로고
    • Recombinant therapeutic proteins: production platforms and challenges
    • Dingermann T. Recombinant therapeutic proteins: production platforms and challenges. Biotechnol J 3 (2008) 90-97
    • (2008) Biotechnol J , vol.3 , pp. 90-97
    • Dingermann, T.1
  • 19
    • 0024566949 scopus 로고
    • Nucleotide sequence of the human alpha-galactosidase A gene
    • Kornreich R., Desnick R.J., and Bishop D.F. Nucleotide sequence of the human alpha-galactosidase A gene. Nucleic Acids Res 17 (1989) 3301-3302
    • (1989) Nucleic Acids Res , vol.17 , pp. 3301-3302
    • Kornreich, R.1    Desnick, R.J.2    Bishop, D.F.3
  • 20
    • 0024567064 scopus 로고
    • Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene
    • Bernstein H.S., Bishop D.F., Astrin K.H., Kornreich R., Eng C.M., Sakuraba H., et al. Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene. J Clin Invest 83 (1989) 1390-1399
    • (1989) J Clin Invest , vol.83 , pp. 1390-1399
    • Bernstein, H.S.1    Bishop, D.F.2    Astrin, K.H.3    Kornreich, R.4    Eng, C.M.5    Sakuraba, H.6
  • 21
    • 0033786533 scopus 로고    scopus 로고
    • Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes
    • Ashton-Prolla P., Tong B., Shabbeer J., Astrin K.H., Eng C.M., and Desnick R.J. Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes. J Investig Med 48 (2000) 227-235
    • (2000) J Investig Med , vol.48 , pp. 227-235
    • Ashton-Prolla, P.1    Tong, B.2    Shabbeer, J.3    Astrin, K.H.4    Eng, C.M.5    Desnick, R.J.6
  • 22
    • 0033276655 scopus 로고    scopus 로고
    • Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease
    • Topaloglu A.K., Ashley G.A., Tong B., Shabbeer J., Astrin K.H., Eng C.M., et al. Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease. Mol Med 5 (1999) 806-811
    • (1999) Mol Med , vol.5 , pp. 806-811
    • Topaloglu, A.K.1    Ashley, G.A.2    Tong, B.3    Shabbeer, J.4    Astrin, K.H.5    Eng, C.M.6
  • 23
    • 0027030174 scopus 로고
    • Some milestones in the history of X-chromosome inactivation
    • Lyon M.F. Some milestones in the history of X-chromosome inactivation. Annu Rev Genet 26 (1992) 16-28
    • (1992) Annu Rev Genet , vol.26 , pp. 16-28
    • Lyon, M.F.1
  • 24
    • 39149133142 scopus 로고    scopus 로고
    • Diagnosis of Fabry disease via analysis of family history
    • [Epub ahead of print]
    • Laney D.A., and Fernhoff P.M. Diagnosis of Fabry disease via analysis of family history. J Genet Couns (2008 Jan 3) [Epub ahead of print]
    • (2008) J Genet Couns
    • Laney, D.A.1    Fernhoff, P.M.2
  • 25
    • 2342524106 scopus 로고    scopus 로고
    • Fabry disease in childhood
    • Desnick R.J., and Brady R.O. Fabry disease in childhood. J Pediatr 144 (2004) 20-26
    • (2004) J Pediatr , vol.144 , pp. 20-26
    • Desnick, R.J.1    Brady, R.O.2
  • 30
    • 33846901559 scopus 로고    scopus 로고
    • Neurological manifestations in Fabry's disease
    • Moller A.T., and Jensen T.S. Neurological manifestations in Fabry's disease. Nat Clin Pract Neurol 3 (2007) 95-106
    • (2007) Nat Clin Pract Neurol , vol.3 , pp. 95-106
    • Moller, A.T.1    Jensen, T.S.2
  • 31
    • 0036980879 scopus 로고    scopus 로고
    • Pathophysiology and assessment of neuropathic pain in Fabry disease
    • Schiffmann R., and Scott L.J. Pathophysiology and assessment of neuropathic pain in Fabry disease. Acta Paediatr 91 (2002) 48-52
    • (2002) Acta Paediatr , vol.91 , pp. 48-52
    • Schiffmann, R.1    Scott, L.J.2
  • 32
    • 0030767337 scopus 로고    scopus 로고
    • Nerve biopsy findings in hemizygous and heterozygous patients with Fabry's disease
    • Toyooka K., and Said G. Nerve biopsy findings in hemizygous and heterozygous patients with Fabry's disease. J Neurol 244 (1997) 464-468
    • (1997) J Neurol , vol.244 , pp. 464-468
    • Toyooka, K.1    Said, G.2
  • 33
    • 0036266968 scopus 로고    scopus 로고
    • Anderson-Fabry disease: extrarenal, neurologic manifestations
    • Kolodny E., and Pastores G. Anderson-Fabry disease: extrarenal, neurologic manifestations. J Am Soc Nephrol 13 (2002) 150-153
    • (2002) J Am Soc Nephrol , vol.13 , pp. 150-153
    • Kolodny, E.1    Pastores, G.2
  • 34
    • 0032211955 scopus 로고    scopus 로고
    • The ultrastructural characteristics of eccrine sweat glands in a Fabry disease patient with hypohidrosis
    • Lao L.M., Kumakiri M., Mima H., Kuwahara H., Ishida H., Ishiguro K., et al. The ultrastructural characteristics of eccrine sweat glands in a Fabry disease patient with hypohidrosis. J Dermatol Sci 18 (1998) 109-117
    • (1998) J Dermatol Sci , vol.18 , pp. 109-117
    • Lao, L.M.1    Kumakiri, M.2    Mima, H.3    Kuwahara, H.4    Ishida, H.5    Ishiguro, K.6
  • 38
    • 0036436320 scopus 로고    scopus 로고
    • Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy
    • Thurberg B.L., Rennke H., Colvin R.B., Dikman S., Gordon R.E., Collins A.B., et al. Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int 62 (2002) 1933-1946
    • (2002) Kidney Int , vol.62 , pp. 1933-1946
    • Thurberg, B.L.1    Rennke, H.2    Colvin, R.B.3    Dikman, S.4    Gordon, R.E.5    Collins, A.B.6
  • 41
    • 0026751048 scopus 로고
    • Schwarting GA, Kolodny EH, Kowall NW. Fabry disease: immunocytochemical characterization of neuronal involvement
    • deVeber GA. Schwarting GA, Kolodny EH, Kowall NW. Fabry disease: immunocytochemical characterization of neuronal involvement. Ann Neurol 31 (1992) 409-415
    • (1992) Ann Neurol , vol.31 , pp. 409-415
    • deVeber GA1
  • 42
    • 0023904549 scopus 로고
    • Nervous system involvement in Fabry's disease: clinicopathological and biochemical correlation
    • Kaye E.M., Kolodny E.H., Logigian E.L., and Ullman M.D. Nervous system involvement in Fabry's disease: clinicopathological and biochemical correlation. Ann Neurol 23 (1988) 505-509
    • (1988) Ann Neurol , vol.23 , pp. 505-509
    • Kaye, E.M.1    Kolodny, E.H.2    Logigian, E.L.3    Ullman, M.D.4
  • 44
    • 0020281848 scopus 로고
    • Testicular and epididymal involvement in Fabry's disease
    • Nistal M., Paniagua R., and Picazo M.L. Testicular and epididymal involvement in Fabry's disease. J Pathol 141 (1983) 113-124
    • (1983) J Pathol , vol.141 , pp. 113-124
    • Nistal, M.1    Paniagua, R.2    Picazo, M.L.3
  • 46
    • 0020052713 scopus 로고
    • Fabry disease: impaired autonomic function
    • Cable W.J., Kolodny E.H., and Adams R.D. Fabry disease: impaired autonomic function. Neurology 32 (1982) 498-502
    • (1982) Neurology , vol.32 , pp. 498-502
    • Cable, W.J.1    Kolodny, E.H.2    Adams, R.D.3
  • 48
    • 0029891216 scopus 로고    scopus 로고
    • Cerebrovascular complications of Fabry's disease
    • Mitsias P., and Levine S.R. Cerebrovascular complications of Fabry's disease. Ann Neurol 40 (1996) 8-17
    • (1996) Ann Neurol , vol.40 , pp. 8-17
    • Mitsias, P.1    Levine, S.R.2
  • 49
    • 0141464141 scopus 로고    scopus 로고
    • 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 D.P., Avan P., Chassaing A., and 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 3 (2002) 10
    • (2002) BMC Med Genet , vol.3 , pp. 10
    • Germain, D.P.1    Avan, P.2    Chassaing, A.3    Bonfils, P.4
  • 50
    • 0025360465 scopus 로고
    • The neurological complications of Anderson-Fabry disease (alpha-galactosidase A deficiency): investigation of symptomatic and presymptomatic patients
    • Morgan S.H., Rudge P., Smith S.J., Bronstein A.M., Kendall B.E., Holly E., et al. The neurological complications of Anderson-Fabry disease (alpha-galactosidase A deficiency): investigation of symptomatic and presymptomatic patients. Q J Med 75 (1990) 491-507
    • (1990) Q J Med , vol.75 , pp. 491-507
    • Morgan, S.H.1    Rudge, P.2    Smith, S.J.3    Bronstein, A.M.4    Kendall, B.E.5    Holly, E.6
  • 52
    • 1642578262 scopus 로고    scopus 로고
    • Inner ear function in children with Fabry disease
    • Keilmann A. Inner ear function in children with Fabry disease. Acta Paediatr 92 (2003) 31-32
    • (2003) Acta Paediatr , vol.92 , pp. 31-32
    • Keilmann, A.1
  • 53
    • 33845884323 scopus 로고    scopus 로고
    • Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease
    • Ries M., Kim H.J., Zalewski C.K., Mastroianni M.A., Moore D.F., Brady R.O., et al. Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease. Brain 130 (2007) 143-150
    • (2007) Brain , vol.130 , pp. 143-150
    • Ries, M.1    Kim, H.J.2    Zalewski, C.K.3    Mastroianni, M.A.4    Moore, D.F.5    Brady, R.O.6
  • 55
    • 33947687663 scopus 로고    scopus 로고
    • 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., et al. 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
  • 56
    • 0037240886 scopus 로고    scopus 로고
    • Fabry disease: recognition and management of cutaneous manifestations
    • Mohrenschlager M., Braun-Falco M., Ring J., and Abeck D. Fabry disease: recognition and management of cutaneous manifestations. Am J Clin Dermatol 4 (2003) 189-196
    • (2003) Am J Clin Dermatol , vol.4 , pp. 189-196
    • Mohrenschlager, M.1    Braun-Falco, M.2    Ring, J.3    Abeck, D.4
  • 57
    • 0030475593 scopus 로고    scopus 로고
    • Angiokeratomas: an update
    • Schiller P.I., and Itin P.H. Angiokeratomas: an update. Dermatology 193 (1996) 275-282
    • (1996) Dermatology , vol.193 , pp. 275-282
    • Schiller, P.I.1    Itin, P.H.2
  • 58
    • 0023950235 scopus 로고
    • Several functional and fluorescein fundus angiographic findings in Fabry's disease
    • Okubo H. Several functional and fluorescein fundus angiographic findings in Fabry's disease. Ophthalmologica 196 (1988) 132-136
    • (1988) Ophthalmologica , vol.196 , pp. 132-136
    • Okubo, H.1
  • 59
  • 60
    • 2542643094 scopus 로고    scopus 로고
    • The expanding clinical spectrum of Anderson-Fabry disease: a challenge to diagnosis in the novel era of enzyme replacement therapy
    • Hauser A.C., Lorenz M., and Sunder-Plassmann G. The expanding clinical spectrum of Anderson-Fabry disease: a challenge to diagnosis in the novel era of enzyme replacement therapy. J Intern Med 255 (2004) 629-636
    • (2004) J Intern Med , vol.255 , pp. 629-636
    • Hauser, A.C.1    Lorenz, M.2    Sunder-Plassmann, G.3
  • 62
    • 0018403928 scopus 로고
    • The ocular manifestations in Fabry's disease
    • Sher N.A., Letson R.D., and Desnick R.J. The ocular manifestations in Fabry's disease. Arch Ophthalmol 97 (1979) 671-676
    • (1979) Arch Ophthalmol , vol.97 , pp. 671-676
    • Sher, N.A.1    Letson, R.D.2    Desnick, R.J.3
  • 63
    • 0027947430 scopus 로고
    • Central retinal artery occlusion in a patient with Fabry's disease documented by scanning laser ophthalmoscopy
    • Andersen M.V., Dahl H., Fledelius H., and Nielsen N.V. Central retinal artery occlusion in a patient with Fabry's disease documented by scanning laser ophthalmoscopy. Acta Ophthalmol 72 (1994) 635-638
    • (1994) Acta Ophthalmol , vol.72 , pp. 635-638
    • Andersen, M.V.1    Dahl, H.2    Fledelius, H.3    Nielsen, N.V.4
  • 65
    • 0031021851 scopus 로고    scopus 로고
    • Isolated glomerular proteinuria as the only clinical manifestation of Fabry's disease in an adult male
    • Meroni M., Spisni C., Tazzari S., Di Vito R., Stingone A., Bovan I., et al. Isolated glomerular proteinuria as the only clinical manifestation of Fabry's disease in an adult male. Nephrol Dial Transplant 12 (1997) 221-223
    • (1997) Nephrol Dial Transplant , vol.12 , pp. 221-223
    • Meroni, M.1    Spisni, C.2    Tazzari, S.3    Di Vito, R.4    Stingone, A.5    Bovan, I.6
  • 66
    • 0036122659 scopus 로고    scopus 로고
    • Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course
    • Branton M.H., Schiffmann R., Sabnis S.G., Murray G.J., Quirk J.M., Altarescu G., et al. Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine 81 (2002) 122-138
    • (2002) Medicine , 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
  • 67
    • 0028838569 scopus 로고
    • Blood pressure control, proteinuria, and the progression of renal disease: the Modification of Diet in Renal Disease Study
    • Peterson J.C., Adler S., Burkart J.M., Greene T., Hebert L.A., Hunsicker L.G., et al. Blood pressure control, proteinuria, and the progression of renal disease: the Modification of Diet in Renal Disease Study. Ann Intern Med 15 123 (1995) 754-762
    • (1995) Ann Intern Med , vol.15 , Issue.123 , pp. 754-762
    • Peterson, J.C.1    Adler, S.2    Burkart, J.M.3    Greene, T.4    Hebert, L.A.5    Hunsicker, L.G.6
  • 68
    • 44449143398 scopus 로고    scopus 로고
    • Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy
    • [Epub ahead of print]
    • Ortiz A., Oliveira J.P., Waldek S., Warnock D.G., Cianciaruso B., and Wanner C. Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy. Nephrol Dial Transplant (2008 Jan 9) [Epub ahead of print]
    • (2008) Nephrol Dial Transplant
    • Ortiz, A.1    Oliveira, J.P.2    Waldek, S.3    Warnock, D.G.4    Cianciaruso, B.5    Wanner, C.6
  • 69
    • 34248190164 scopus 로고    scopus 로고
    • 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., et al. 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
  • 72
    • 0242487692 scopus 로고    scopus 로고
    • 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 162 (2003) 767-772
    • (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
  • 73
    • 4544344055 scopus 로고    scopus 로고
    • Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy
    • Chimenti C., Pieroni M., Morgante E., Antuzzi D., Russo A., Russo M.A., et al. Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy. Circulation 110 (2004) 1047-1053
    • (2004) Circulation , vol.110 , pp. 1047-1053
    • Chimenti, C.1    Pieroni, M.2    Morgante, E.3    Antuzzi, D.4    Russo, A.5    Russo, M.A.6
  • 74
    • 0037177166 scopus 로고    scopus 로고
    • Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy
    • Sachdev B., Takenaka T., Teraguchi H., Tei C., Lee P., McKenna W.J., et al. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 105 (2002) 1407-1411
    • (2002) Circulation , vol.105 , pp. 1407-1411
    • Sachdev, B.1    Takenaka, T.2    Teraguchi, H.3    Tei, C.4    Lee, P.5    McKenna, W.J.6
  • 75
    • 0037461097 scopus 로고    scopus 로고
    • Early detection of Fabry cardiomyopathy by tissue Doppler imaging
    • Pieroni M., Chimenti C., Ricci R., Sale P., Russo M.A., and Frustaci A. Early detection of Fabry cardiomyopathy by tissue Doppler imaging. Circulation 22 107 (2003) 1978-1984
    • (2003) Circulation , vol.22 , Issue.107 , pp. 1978-1984
    • Pieroni, M.1    Chimenti, C.2    Ricci, R.3    Sale, P.4    Russo, M.A.5    Frustaci, A.6
  • 76
    • 0141765881 scopus 로고    scopus 로고
    • Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study
    • Weidemann F., Breunig F., Beer M., Sandstede J., Turschner O., Voelker W., et al. Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study. Circulation 108 (2003) 1299-1301
    • (2003) Circulation , vol.108 , pp. 1299-1301
    • Weidemann, F.1    Breunig, F.2    Beer, M.3    Sandstede, J.4    Turschner, O.5    Voelker, W.6
  • 77
    • 33645528253 scopus 로고    scopus 로고
    • Clinical benefit of enzyme replacement therapy in Fabry disease
    • Breunig F., Weidemann F., Strotmann J., Knoll A., and Wanner C. Clinical benefit of enzyme replacement therapy in Fabry disease. Kidney Int 69 (2006) 1216-1221
    • (2006) Kidney Int , vol.69 , pp. 1216-1221
    • Breunig, F.1    Weidemann, F.2    Strotmann, J.3    Knoll, A.4    Wanner, C.5
  • 78
    • 0343618421 scopus 로고    scopus 로고
    • New insights in cardiac structural changes in patients with Fabry's disease
    • Linhart A., Palecek T., Bultas J., Ferguson J.J., Hrudova J., Karetova D., et al. New insights in cardiac structural changes in patients with Fabry's disease. Am Heart J 139 (2000) 1101-1108
    • (2000) Am Heart J , vol.139 , pp. 1101-1108
    • Linhart, A.1    Palecek, T.2    Bultas, J.3    Ferguson, J.J.4    Hrudova, J.5    Karetova, D.6
  • 79
    • 33745883269 scopus 로고    scopus 로고
    • The histological basis of late gadolinium enhancement cardiovascular magnetic resonance in a patient with Anderson-Fabry disease
    • Moon J.C., Sheppard M., Reed E., Lee P., Elliott P.M., and Pennell D.J. The histological basis of late gadolinium enhancement cardiovascular magnetic resonance in a patient with Anderson-Fabry disease. J Cardiovasc Magn Reson 8 (2006) 479-482
    • (2006) J Cardiovasc Magn Reson , vol.8 , pp. 479-482
    • Moon, J.C.1    Sheppard, M.2    Reed, E.3    Lee, P.4    Elliott, P.M.5    Pennell, D.J.6
  • 84
    • 36549009001 scopus 로고    scopus 로고
    • Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy
    • Hoffmann B., Schwarz M., Mehta A., and Keshav S. Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy. Clin Gastroenterol Hepatol 5 (2007) 1447-1453
    • (2007) Clin Gastroenterol Hepatol , vol.5 , pp. 1447-1453
    • Hoffmann, B.1    Schwarz, M.2    Mehta, A.3    Keshav, S.4
  • 85
    • 33947673920 scopus 로고    scopus 로고
    • Rheumatologic aspects of lysosomal storage diseases
    • Manger B., Mengel E., and Schaefer R.M. Rheumatologic aspects of lysosomal storage diseases. Clin Rheumatol 26 (2007) 335-341
    • (2007) Clin Rheumatol , vol.26 , pp. 335-341
    • Manger, B.1    Mengel, E.2    Schaefer, R.M.3
  • 88
    • 23944438508 scopus 로고    scopus 로고
    • Bilateral femoral head and distal tibial osteonecrosis in a patient with Fabry disease
    • Lien Y.H., and Lai L.W. Bilateral femoral head and distal tibial osteonecrosis in a patient with Fabry disease. Am J Orthop 34 (2005) 192-194
    • (2005) Am J Orthop , vol.34 , pp. 192-194
    • Lien, Y.H.1    Lai, L.W.2
  • 89
    • 20944449722 scopus 로고    scopus 로고
    • Osteopenia and osteoporosis: previously unrecognized manifestations of Fabry disease
    • Germain D.P., Benistan K., Boutouyrie P., and Mutschler C. Osteopenia and osteoporosis: previously unrecognized manifestations of Fabry disease. Clin Genet 68 (2005) 93-95
    • (2005) Clin Genet , vol.68 , pp. 93-95
    • Germain, D.P.1    Benistan, K.2    Boutouyrie, P.3    Mutschler, C.4
  • 91
    • 33748746594 scopus 로고    scopus 로고
    • Fabry disease: guidelines for the evaluation and management of multi-organ system involvement
    • Eng C.M., Germain D.P., Banikazemi M., Warnock D.G., Wanner C., Hopkin R.J., et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med 8 (2006) 539-548
    • (2006) Genet Med , vol.8 , pp. 539-548
    • Eng, C.M.1    Germain, D.P.2    Banikazemi, M.3    Warnock, D.G.4    Wanner, C.5    Hopkin, R.J.6
  • 92
    • 0027373749 scopus 로고
    • Psychiatric disorders in patients with Fabry's disease
    • Grewal R.P. Psychiatric disorders in patients with Fabry's disease. Int J Psychiatry Med 23 (1993) 307-312
    • (1993) Int J Psychiatry Med , vol.23 , pp. 307-312
    • Grewal, R.P.1
  • 94
    • 0022039364 scopus 로고
    • Early prenatal diagnosis of inborn error of metabolism: a case report of a fetus affected with Fabry's disease
    • Tsutsumi O., Sato M., Sato K., Mizuno M., and Sakamoto S. Early prenatal diagnosis of inborn error of metabolism: a case report of a fetus affected with Fabry's disease. Asia Oceania J Obstet Gynaecol 11 (1985) 39-45
    • (1985) Asia Oceania J Obstet Gynaecol , vol.11 , pp. 39-45
    • Tsutsumi, O.1    Sato, M.2    Sato, K.3    Mizuno, M.4    Sakamoto, S.5
  • 97
    • 0014964372 scopus 로고
    • Fabry's disease: alpha-galactosidase deficiency
    • Kint J.A. Fabry's disease: alpha-galactosidase deficiency. Science 167 (1970) 1268-1269
    • (1970) Science , vol.167 , pp. 1268-1269
    • Kint, J.A.1
  • 98
    • 0034970245 scopus 로고    scopus 로고
    • Fabry disease: enzymatic diagnosis in dried blood spots on filter paper
    • Chamoles N.A., Blanco M., and Gaggioli D. Fabry disease: enzymatic diagnosis in dried blood spots on filter paper. Clin Chim Acta 308 (2001) 195-196
    • (2001) Clin Chim Acta , vol.308 , pp. 195-196
    • Chamoles, N.A.1    Blanco, M.2    Gaggioli, D.3
  • 99
    • 77049309786 scopus 로고
    • Studies on the fibrinogen, dextran and phytohemagglutinin methods of isolating leukocytes
    • Skoog W.A., and Beck W.S. Studies on the fibrinogen, dextran and phytohemagglutinin methods of isolating leukocytes. Blood 11 (1956) 436-454
    • (1956) Blood , vol.11 , pp. 436-454
    • Skoog, W.A.1    Beck, W.S.2
  • 100
    • 0033897677 scopus 로고    scopus 로고
    • Fibroblasts of skin fragments as a tool for the investigation of genetic diseases: technical recommendations
    • Coelho J.C., and Giugliani R. Fibroblasts of skin fragments as a tool for the investigation of genetic diseases: technical recommendations. Gen Mol Biol 23 (2000) 269-271
    • (2000) Gen Mol Biol , vol.23 , pp. 269-271
    • Coelho, J.C.1    Giugliani, R.2
  • 101
    • 0037452544 scopus 로고    scopus 로고
    • Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy
    • Desnick R.J., Brady R., Barranger J., Collins A.J., Germain D.P., Goldman M., et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 138 (2003) 338-346
    • (2003) Ann Intern Med , vol.138 , pp. 338-346
    • Desnick, R.J.1    Brady, R.2    Barranger, J.3    Collins, A.J.4    Germain, D.P.5    Goldman, M.6
  • 102
    • 13444267466 scopus 로고    scopus 로고
    • Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers
    • Linthorst G.E., Vedder A.C., Aerts J.M., and Hollak C.E. Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers. Clin Chim Acta 353 (2005) 201-203
    • (2005) Clin Chim Acta , vol.353 , pp. 201-203
    • Linthorst, G.E.1    Vedder, A.C.2    Aerts, J.M.3    Hollak, C.E.4
  • 103
    • 0018264552 scopus 로고
    • Purification and properties of the two major isozymes of alpha-galactosidase from human placenta
    • Kusiak J.W., Quirk J.M., and Brady R.O. Purification and properties of the two major isozymes of alpha-galactosidase from human placenta. J Biol Chem 253 (1978) 184-190
    • (1978) J Biol Chem , vol.253 , pp. 184-190
    • Kusiak, J.W.1    Quirk, J.M.2    Brady, R.O.3
  • 104
    • 0029023150 scopus 로고
    • An atypical variant of Fabry's disease in men with left ventricular hypertrophy
    • Nakao S., Takenaka T., Maeda M., Kodama C., Tanaka A., Tahara M., et al. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 333 (1995) 288-293
    • (1995) N Engl J Med , vol.333 , pp. 288-293
    • Nakao, S.1    Takenaka, T.2    Maeda, M.3    Kodama, C.4    Tanaka, A.5    Tahara, M.6
  • 105
    • 38849109999 scopus 로고    scopus 로고
    • Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease
    • [Epub ahead of print]
    • Auray-Blais C., Cyr D., Ntwari A., West M.L., Cox-Brinkman J., Bichet D.G., et al. Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease. Mol Genet Metab (2007 Nov 16) [Epub ahead of print]
    • (2007) Mol Genet Metab
    • Auray-Blais, C.1    Cyr, D.2    Ntwari, A.3    West, M.L.4    Cox-Brinkman, J.5    Bichet, D.G.6
  • 106
    • 0023491138 scopus 로고
    • Fabry disease: molecular diagnosis of hemizygotes and heterozygotes
    • Desnick R.J., Bernstein H.S., Astrin K.H., and Bishop D.F. Fabry disease: molecular diagnosis of hemizygotes and heterozygotes. Enzyme 38 (1987) 54-64
    • (1987) Enzyme , vol.38 , pp. 54-64
    • Desnick, R.J.1    Bernstein, H.S.2    Astrin, K.H.3    Bishop, D.F.4
  • 107
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller S.A., Dykes D.D., and Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16 (1988) 1215
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 108
    • 0027491109 scopus 로고
    • Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease
    • Eng C.M., Resnick-Silverman L.A., Niehaus D.J., Astrin K.H., and Desnick R.J. Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. Am J Hum Genet 53 (1993) 1186-1197
    • (1993) Am J Hum Genet , vol.53 , pp. 1186-1197
    • Eng, C.M.1    Resnick-Silverman, L.A.2    Niehaus, D.J.3    Astrin, K.H.4    Desnick, R.J.5
  • 109
    • 0026621977 scopus 로고
    • DNA sequencing with chain-terminating inhibitors. 1977
    • Sanger F., Nicklen S., and Coulson A.R. DNA sequencing with chain-terminating inhibitors. 1977. Biotechnology 24 (1992) 104-108
    • (1992) Biotechnology , Issue.24 , pp. 104-108
    • Sanger, F.1    Nicklen, S.2    Coulson, A.R.3
  • 110
    • 0036981032 scopus 로고    scopus 로고
    • Evaluation of peripheral and autonomic nerve function in Fabry disease
    • Hilz M.J. Evaluation of peripheral and autonomic nerve function in Fabry disease. Acta Paediatr Suppl 91 (2002) 38-42
    • (2002) Acta Paediatr Suppl , vol.91 , pp. 38-42
    • Hilz, M.J.1
  • 111
    • 0031764478 scopus 로고    scopus 로고
    • Gastrointestinal symptoms and delayed gastric emptying in Fabry's disease: response to metoclopramide
    • Argoff C.E., Barton N.W., Brady R.O., and Ziessman H.A. Gastrointestinal symptoms and delayed gastric emptying in Fabry's disease: response to metoclopramide. Nucl Med Commun 19 (1998) 887-891
    • (1998) Nucl Med Commun , vol.19 , pp. 887-891
    • Argoff, C.E.1    Barton, N.W.2    Brady, R.O.3    Ziessman, H.A.4
  • 112
    • 0033911019 scopus 로고    scopus 로고
    • Induced sputum examination: diagnosis of pulmonary involvement in Fabry's disease
    • Kelly M.M., Leigh R., McKenzie R., Kamada D., Ramsdale E.H., and Hargreave F.E. Induced sputum examination: diagnosis of pulmonary involvement in Fabry's disease. Thorax 55 (2000) 720-721
    • (2000) Thorax , vol.55 , pp. 720-721
    • Kelly, M.M.1    Leigh, R.2    McKenzie, R.3    Kamada, D.4    Ramsdale, E.H.5    Hargreave, F.E.6
  • 113
    • 0029145344 scopus 로고
    • Painful fingers, heat intolerance, and telangiectases of the ear: easily ignored childhood signs of Fabry disease
    • Shelley E.D., Shelley W.B., and Kurczynski T.W. Painful fingers, heat intolerance, and telangiectases of the ear: easily ignored childhood signs of Fabry disease. Pediatr Dermatol 12 (1995) 215-219
    • (1995) Pediatr Dermatol , vol.12 , pp. 215-219
    • Shelley, E.D.1    Shelley, W.B.2    Kurczynski, T.W.3
  • 114
    • 34548474768 scopus 로고    scopus 로고
    • Antiproteinuric therapy and Fabry nephropathy: sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase-beta
    • Tahir H., Jackson L.L., and Warnock D.G. Antiproteinuric therapy and Fabry nephropathy: sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase-beta. J Am Soc Nephrol 18 (2007) 2609-2617
    • (2007) J Am Soc Nephrol , vol.18 , pp. 2609-2617
    • Tahir, H.1    Jackson, L.L.2    Warnock, D.G.3
  • 115
    • 0035097499 scopus 로고    scopus 로고
    • 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.E., Goldman M., Phelps R., Kim L., et al. A phase 1/2 clinical trial of enzyme replacement in Fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet 68 (2001) 711-722
    • (2001) Am J Hum Genet , vol.68 , pp. 711-722
    • Eng, C.M.1    Banikazemi, M.2    Gordon, R.E.3    Goldman, M.4    Phelps, R.5    Kim, L.6
  • 116
    • 0035811624 scopus 로고    scopus 로고
    • Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease
    • Eng C.M., Guffon N., Wilcox W.R., Germain D.P., Lee P., Waldek S., et al. Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease. N Engl J Med 345 (2001) 9-16
    • (2001) N Engl J Med , vol.345 , pp. 9-16
    • Eng, C.M.1    Guffon, N.2    Wilcox, W.R.3    Germain, D.P.4    Lee, P.5    Waldek, S.6
  • 118
    • 70349180951 scopus 로고    scopus 로고
    • Fabry disease: generation of a mouse model with alpha-galactosidase A
    • Wang A., Ioannou Y., and Zeidner K. Fabry disease: generation of a mouse model with alpha-galactosidase A. Am J Hum Genet (1996) 59
    • (1996) Am J Hum Genet , pp. 59
    • Wang, A.1    Ioannou, Y.2    Zeidner, K.3
  • 119
    • 0035163539 scopus 로고    scopus 로고
    • Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice
    • Ioannou Y.A., Zeidner K.M., Gordon R.E., and Desnick R.J. Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice. Am J Hum Genet 68 (2001) 14-25
    • (2001) Am J Hum Genet , vol.68 , pp. 14-25
    • Ioannou, Y.A.1    Zeidner, K.M.2    Gordon, R.E.3    Desnick, R.J.4
  • 123
    • 85058721746 scopus 로고    scopus 로고
    • Safety and efficacy of enzyme replacement therapy with agalsidase beta: An international, open-label study in pediatric patients with Fabry disease
    • in press
    • Wraith JE, Tylki-Szymanska A, Guffon N, Lien YH, Tsimaratos M, Vellodi A, et al. Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease. J Pediatr, in press.
    • J Pediatr
    • Wraith, J.E.1    Tylki-Szymanska, A.2    Guffon, N.3    Lien, Y.H.4    Tsimaratos, M.5    Vellodi, A.6    et al7
  • 124
    • 1842423556 scopus 로고    scopus 로고
    • Enzyme replacement therapy improves function of C-, Adelta-, and Abeta-nerve fibers in Fabry neuropathy
    • Hilz M.J., Brys M., Marthol H., Stemper B., and Dutsch M. Enzyme replacement therapy improves function of C-, Adelta-, and Abeta-nerve fibers in Fabry neuropathy. Neurology 62 (2004) 1066-1072
    • (2004) Neurology , vol.62 , pp. 1066-1072
    • Hilz, M.J.1    Brys, M.2    Marthol, H.3    Stemper, B.4    Dutsch, M.5
  • 125
    • 23044513293 scopus 로고    scopus 로고
    • Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy
    • Banikazemi M., Ullman T., and Desnick R.J. Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy. Mol Genet Metab 85 (2005) 255-259
    • (2005) Mol Genet Metab , vol.85 , pp. 255-259
    • Banikazemi, M.1    Ullman, T.2    Desnick, R.J.3
  • 126
    • 4344713083 scopus 로고    scopus 로고
    • Enzyme replacement therapy with agalsidase beta improves cardiac involvement in Fabry's disease
    • Spinelli L., Pisani A., Sabbatini M., Petretta M., Andreucci M.V., Procaccini D., et al. Enzyme replacement therapy with agalsidase beta improves cardiac involvement in Fabry's disease. Clin Genet 66 (2004) 158-165
    • (2004) Clin Genet , vol.66 , pp. 158-165
    • Spinelli, L.1    Pisani, A.2    Sabbatini, M.3    Petretta, M.4    Andreucci, M.V.5    Procaccini, D.6


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