메뉴 건너뛰기




Volumn 130, Issue 1, 2007, Pages 143-150

Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease

Author keywords

Fabry disease; Hearing impairment; Peripheral neuropathy; Stroke; X linked disorder

Indexed keywords

ALPHA GALACTOSIDASE;

EID: 33845884323     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awl310     Document Type: Article
Times cited : (64)

References (33)
  • 2
    • 0034924174 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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
  • 7
    • 0036122659 scopus 로고    scopus 로고
    • 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
  • 10
    • 0032992784 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 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 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
  • 15
    • 0018396130 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 25
    • 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 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
  • 31
    • 0019861728 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.