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European Journal of Pediatrics
Published in: European Journal of Pediatrics 7-8/2003

01-07-2003 | Research Letter

Enzyme replacement therapy in an adolescent with Fabry disease

Authors: Sabine Illsinger, Thomas Luecke, Hendrik Langen, Anibh M. Das

Published in: European Journal of Pediatrics | Issue 7-8/2003

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Excerpt

Here we report on a 15-year-old patient with Fabry disease undergoing enzyme replacement therapy showing that this therapy is a promising, effective and safe management strategy for adolescent patients. …
Literature
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Brady RO, Gal AE, Bradley RM, Martensson E, Warshew AL, Laster L (1967) Enzymatic defect in Fabry disease. N Eng J Med 276: 1163–1167CrossRef
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Cleeland CS (2002) Pain assessment: the advantages of using pain scales in lysosomal storage diseases. Acta Paediatr Suppl 91: 43–47CrossRefPubMed
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Desnick JR, Ioannou YA, Eng CM (2001) α-galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Childs B, Kinzler KE, Vogelstein B (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw Hill, New York, pp 3733–3774
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Eng CM, Banikazemi M, Gordon RE, Goldman M, Phelps R, Kim L, Gass A, Winston J, Dikman S, Fallon JT, Brodie S, Stacy CB, Mehta D, Parsons R, Norton K, O'Callaghan M, Desnick RJ (2001a) A phase 1/2 clinical trial of enzyme replacement in Fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet 68: 711–722CrossRefPubMedPubMedCentral
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Eng CM, Guffon N, Wilcox WR (2001b) A multicenter, randomized, double-blind, placebo-controlled study of the safety and efficacy of recombinat human α-galactosidase A replacement therapy in Fabry disease. N Eng J Med 345: 9-16CrossRef
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Schiffmann R, Kopp JB, Austin III HA, Sabnis S, Moore DF, Weibel T, Balow J, Brady RO (2001) Enzyme replacement therapy in Fabry disease. JAMA 285: 2743–2749CrossRefPubMed
Metadata
Title
Enzyme replacement therapy in an adolescent with Fabry disease
Authors
Sabine Illsinger
Thomas Luecke
Hendrik Langen
Anibh M. Das
Publication date
01-07-2003
Publisher
Springer Berlin Heidelberg
Published in
European Journal of Pediatrics / Issue 7-8/2003
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI
https://doi.org/10.1007/s00431-003-1222-y

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