Статьи и публикации

Случай диагностики болезни Андерсона-Фабри
Случай болезни Фабри у взрослого глазами кардиолога и генетика
Поражение сердца при болезни Фабри: как заподозрить, диагностировать и лечить?

Jardim LB, Becker J, Neto C, Nora D, Matte U, Pereira F et al. Improvement of sympathetic skin responses after enzyme replacement therapy in Fabry disease. Acta Paediatr 2006;95 (Suppl 451):133

Jardim L, Vedolin L, Schwartz IV, Burin MG, Cecchin C, Kalakun L et al. CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy. J Inherit Metab Dis 2004;27:229-40

Jenkins N, Parekh RB, James DC. Getting the glycosylation right: implications for the biotechnology industry. Nat Biotechnol 1996;14:975-81

Johnson DL, Del Monte MA, Cotlier E, Desnick RJ. Fabry disease: diagnosis by а-galactosidase activities in tears. Clin Chim Acta 1975;63:81-90

Johnson KA, Brensinger JD. Genetic counseling and testing: implications for clinical practice. Nurs Clin North Am 2000;35:615-26

Johnston AW, Weller SD, Warland BJ. Angiokeratoma corporis diffusum. Some clinical aspects. Arch Dis Child 1968;43:73-9

Jung SC, Han IP, Limaye A, Xu R, Gelderman MP, Zerfas P et al. Adeno-associated viral vector-mediated gene transfer results in long-term enzymatic and functional correction in multiple organs of Fabry mice. Proc Natl Acad Sci USA 2001;98:2676-81

Kampmann C, Baehner F, Whybra C, Martin C, Wiethoff CM, Ries M et al. Cardiac manifestations of Anderson-Fabry disease in heterozygous females. J Am Coll Cardiol 2002a; 40:1668-74

Kampmann C, Baehner FA, Whybra C, Bajbouj M, Baron K, Knuf M et al. The right ventricle in Fabry disease. Acta Paediatr Suppl 2005;94:15-18

Kampmann C, Whybra C, Baehner FA, Beck M. Enzyme replacement therapy in Anderson-Fabry cardiomyopathy. Heart Metab 2002b;18:39-41

Kampmann C, Wiethoff CM, Martin C, Wenzel A, Kampmann R, Whybra C et al. Electrocardiographic signs of hypertrophy in Fabry disease-associated hypertrophic cardiomyopathy. Acta Paediatr Suppl 2002c;91:21-7

Kanzaki T, Yokota M, Mizuno N, Matsumoto Y, Hirabayashi Y. Novel lysosomal glycoaminoacid storage disease with angiokeratoma corporis diffusum. Lancet 1989;1:875-7

Kariman K, Singletary WV Jr, Sieker HO. Pulmonary involvement in Fabry's disease. Am J Med 1978;64:911-12

Katz SM, Lyons PJ. Urinary ultrastructural findings in Fabry disease. JAMA 1977;237:1121-2

Keilmann A. Inner ear function in children with Fabry disease. Acta Paediatr Suppl 2003;92:31-2

Keshav S. Gastrointestinal manifestations of Fabry disease. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry disease: perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis Ltd; 2006: p. 271-9

Kint JA. Fabry's disease: а-galactosidase deficiency. Science 1970;167:1268-9

Kitagawa T, Ishige N, Suzuki K, Owada M, Ohashi T, Kobayashi M et al. Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry. Mol Genet Metab 2005;85:196-202

Kleijer WJ, Hussaarts-Odijk LM, Sachs ES, Jahoda MG, Niermeijer MF. Prenatal diagnosis of Fabry's disease by direct analysis of chorionic villi. Prenat Diagn 1987;7:283-7

Kleinert J, Dehout F, Schwarting A, de Lorenzo AG, Ricci R, Kampmann C et al. Anemia is a new complication in Fabry disease: data from the Fabry Outcome Survey. Kidney Int 2005;67:1955-60

Knol IE, Ausems MG, Lindhout D, van Diggelen OP, Verwey H, Davies J et al. Different phenotypic expression in relatives with Fabry disease caused by a W226X mutation. Am J Med Genet 1999;82:436-9

Komamura K, Higashi M, Yamada N. Improvement of cardiac hypertrophy and ventricular function in a man with Fabry disease by treatment with recombinant а-galactosidase A. Heart 2004;90:617

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