References
Brady RO, Gal AE, Bradley RM, Martensson E, Warshew AL, Laster L (1967) Enzymatic defect in Fabry disease. N Eng J Med 276: 1163–1167
Cleeland CS (2002) Pain assessment: the advantages of using pain scales in lysosomal storage diseases. Acta Paediatr Suppl 91: 43–47
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
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: 711–722
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: 9-16
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: 2743–2749
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Illsinger, S., Luecke, T., Langen, H. et al. Enzyme replacement therapy in an adolescent with Fabry disease. Eur J Pediatr 162, 522–523 (2003). https://doi.org/10.1007/s00431-003-1222-y
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00431-003-1222-y