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Volumn 156, Issue 5, 2010, Pages 828-831

Misdiagnosis in Fabry Disease

Author keywords

[No Author keywords available]

Indexed keywords

PENICILLIN G;

EID: 77950603771     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2010.02.012     Document Type: Article
Times cited : (68)

References (33)
  • 1
    • 0001089467 scopus 로고
    • Fabry's disease: classification as a sphingolipidosis and partial characterization of a novel glycolipid
    • Sweeley C.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.C.1    Klionsky, B.2
  • 3
    • 0034766525 scopus 로고    scopus 로고
    • Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males
    • MacDermot K.D., Holmes A., and Minners A.H. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 38 (2001) 750-760
    • (2001) J Med Genet , vol.38 , pp. 750-760
    • MacDermot, K.D.1    Holmes, A.2    Minners, A.H.3
  • 4
    • 0034754467 scopus 로고    scopus 로고
    • Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females
    • MacDermot K.D., Holmes A., and Minners A.H. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 38 (2001) 769-775
    • (2001) J Med Genet , vol.38 , pp. 769-775
    • MacDermot, K.D.1    Holmes, A.2    Minners, A.H.3
  • 5
    • 12144287518 scopus 로고    scopus 로고
    • Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey
    • Mehta A., Ricci R., Widmer U., Dehout F., Garcia de Lorenzo A., Kampmann C., et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 34 (2004) 236-242
    • (2004) Eur J Clin Invest , vol.34 , pp. 236-242
    • Mehta, A.1    Ricci, R.2    Widmer, U.3    Dehout, F.4    Garcia de Lorenzo, A.5    Kampmann, C.6
  • 7
    • 40849094670 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
    • Wraith J.E., Tylki-Szymanska A., Guffon N., Lien Y.H., 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 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
  • 9
    • 33749067655 scopus 로고    scopus 로고
    • Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease
    • Ries M., Clarke J.T., Whybra C., Timmons M., Robinson C., Schlaggar B.L., et al. 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.2    Whybra, C.3    Timmons, M.4    Robinson, C.5    Schlaggar, B.L.6
  • 11
    • 2342524106 scopus 로고    scopus 로고
    • Fabry disease in childhood
    • Desnick R.J., and Brady R.O. Fabry disease in childhood. J Pediatr 144 Suppl (2004) S20-S26
    • (2004) J Pediatr , vol.144 , Issue.SUPPL
    • Desnick, R.J.1    Brady, R.O.2
  • 12
    • 0015660216 scopus 로고
    • Psychosis in Fabry disease and treatment with phenoxybenzamine
    • Liston E.H., Levine M.D., and Philippart M. Psychosis in Fabry disease and treatment with phenoxybenzamine. Arch Gen Psychiatry 29 (1973) 402-403
    • (1973) Arch Gen Psychiatry , vol.29 , pp. 402-403
    • Liston, E.H.1    Levine, M.D.2    Philippart, M.3
  • 13
    • 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
  • 15
    • 0036980878 scopus 로고    scopus 로고
    • Mechanisms of neuropathic pain and their importance in Fabry disease
    • Birklein F. Mechanisms of neuropathic pain and their importance in Fabry disease. Acta Paediatr Suppl 91 (2002) 34-37
    • (2002) Acta Paediatr Suppl , vol.91 , pp. 34-37
    • Birklein, F.1
  • 17
    • 34250723911 scopus 로고    scopus 로고
    • Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy-a retrospective analysis from the Fabry Outcome Survey
    • Hoffmann B., Beck M., Sunder-Plassmann G., Borsini W., Ricci R., Mehta A., et al. Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy-a retrospective analysis from the Fabry Outcome Survey. Clin J Pain 23 (2007) 535-542
    • (2007) Clin J Pain , vol.23 , pp. 535-542
    • Hoffmann, B.1    Beck, M.2    Sunder-Plassmann, G.3    Borsini, W.4    Ricci, R.5    Mehta, A.6
  • 19
    • 33947673920 scopus 로고    scopus 로고
    • Rheumatologic aspects of lysosomal storage diseases
    • Manger B., Mengel E., and Schaefer R. 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.3
  • 21
    • 55849108852 scopus 로고    scopus 로고
    • Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry
    • Hopkin R., Bissler J., Banikazemi M., Clarke L., Eng G., Germain D., et al. Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr Res 64 (2009) 550-555
    • (2009) Pediatr Res , vol.64 , pp. 550-555
    • Hopkin, R.1    Bissler, J.2    Banikazemi, M.3    Clarke, L.4    Eng, G.5    Germain, D.6
  • 22
    • 36549009001 scopus 로고    scopus 로고
    • Fabry Outcome Survey European Investigators. Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy
    • Hoffmann B., Schwarz M., Mehta A., and Keshav S. Fabry Outcome Survey European Investigators. 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
  • 23
    • 0037287273 scopus 로고    scopus 로고
    • One hundred cases of recurrent abdominal pain in children: diagnostic procedures and criteria for a psychosomatic diagnosis
    • Alfvén G. One hundred cases of recurrent abdominal pain in children: diagnostic procedures and criteria for a psychosomatic diagnosis. Acta Paediatr 92 (2003) 43-49
    • (2003) Acta Paediatr , vol.92 , pp. 43-49
    • Alfvén, G.1
  • 25
    • 25644436397 scopus 로고    scopus 로고
    • The epidemiology of childhood recurrent abdominal pain in Western countries: a systematic review
    • Chitkara D.K., Rawat D.J., and Talley N.J. The epidemiology of childhood recurrent abdominal pain in Western countries: a systematic review. Am J Gastroenterol 100 (2005) 1868-1875
    • (2005) Am J Gastroenterol , vol.100 , pp. 1868-1875
    • Chitkara, D.K.1    Rawat, D.J.2    Talley, N.J.3
  • 26
    • 0033118405 scopus 로고    scopus 로고
    • Chronic abdominal pain in childhood: diagnosis and management
    • Lake A.M. Chronic abdominal pain in childhood: diagnosis and management. Am Fam Physician 59 (1999) 1823-1830
    • (1999) Am Fam Physician , vol.59 , pp. 1823-1830
    • Lake, A.M.1
  • 28
    • 0020081326 scopus 로고
    • Chronic abdominal pain caused by sorbitol malabsorption
    • Hyams J.S. Chronic abdominal pain caused by sorbitol malabsorption. J Pediatr 100 (1982) 772-773
    • (1982) J Pediatr , vol.100 , pp. 772-773
    • Hyams, J.S.1
  • 29
    • 77950620276 scopus 로고    scopus 로고
    • Del angioqueratoma a la enfermedad de Fabry
    • Della Giovanna P. Del angioqueratoma a la enfermedad de Fabry. Dermatol Arg 4 (2004) 263-269
    • (2004) Dermatol Arg , vol.4 , pp. 263-269
    • Della Giovanna, P.1
  • 30
    • 0037240886 scopus 로고    scopus 로고
    • Fabry disease: recognition and management of cutaneous manifestations
    • Möhrenschlager 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
    • Möhrenschlager, M.1    Braun-Falco, M.2    Ring, J.3    Abeck, D.4
  • 31
    • 0036796821 scopus 로고    scopus 로고
    • New developments in the management of Anderson-Fabry disease
    • Metha A. New developments in the management of Anderson-Fabry disease. QJM 95 (2002) 647-653
    • (2002) QJM , vol.95 , pp. 647-653
    • Metha, A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.