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?

Kornreich R, Desnick RJ. Fabry disease: detection of gene rearrangements in the human а-galactosidase A gene by multiplex PCR amplification. Hum Mutat 1993;2:108-11

Kornreich R, Desnick RJ, Bishop DF. Nucleotide sequence of the human а-galactosidase A gene. Nucleic Acids Res 1989;17:3301-2

Kotanko P, Kramar R, Devrnja D, Paschke E, Voigtlander T, Auinger M et al. Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. J Am Soc Nephrol 2004a;15:1323-9

Kotanko P, Kramar R, Devrnja D, Paschke E, Voigtlander T, Auinger M et al. Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. J Am Soc Nephrol 2004b;15:1323-9

Kriegsmann J, Otto M, Wandel E, Schwarting A, Faust J, Hansen T et al. [Fabry's disease, glomerulonephritis with crescentic and granulomatous interstitial nephritis. Case of one family]. Pathologe 2003;24:439-43

Lemansky P, Bishop DF, Desnick RJ, Hasilik A, von Figura K. Synthesis and processing of а-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease. J Biol Chem 1987;262:2062-5

Lenoir G, Rivron M, Gubler MC, Dufier JL, Tome FS, Guivarch M. [Fabry's disease. Carbamazepine therapy in acrodyniform syndrome]. Arch Fr Pediatr 1977;34:704-16

Lidove O, Klein I, Lelievre J-D, Lavallee P, Serfaty J-M, Dupuis E et al. Imaging features of Fabry disease. Am J Roentgenol 2006;186:1184-91

Linhart A. The heart in 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. 189-201

Linhart A, Lubanda JC, Palecek T, Bultas J, Karetova D, Ledvinova J et al. Cardiac manifestations in Fabry disease. J Inherit Metab Dis 2001;24 Suppl 2:75-83

Linhart A, Magage S, Palecek T, Bultas J. Cardiac involvement in Fabry disease. Acta Paediatr Suppl 2002;91:15-20

Linhart A, Palecek T, Bultas J, Ferguson JJ, Hrudova J, Karetova D et al. New insights in cardiac structural changes in patients with Fabry's disease. Am Heart J2000;139:1101-8

Linthorst GE, Hollak CE, Donker-Koopman WE, Strijland A, Aerts JM. Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta. Kidney Int 2004;66:1589-95

Linthorst GE, Hollak CE, Korevaar JC, Van Manen JG, Aerts JM, Boeschoten EW. а-Galactosidase A deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease. Nephrol Dial Transplant 2003;18:1581-4

Lockman LA, Hunninghake DB, Krivit W, Desnick RJ. Relief of pain of Fabry's disease by diphenylhydantoin. Neurology 1973;23:871-5
Lyon MF. Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature 1961;190:372-3

Lyon MF. X-chromosome inactivation: a repeat hypothesis. Cytogenet Cell Genet 1998;80:133-7

MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001a; 38:750-60

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 2001b;38:769-75

Maier EM, Osterrieder S, Whybra C, Ries M, Gal A, Beck M et al. Disease manifestations and X inactivation in hetero­zygous females with Fabry disease. Acta Paediatr 2006; 95(Suppl 451):30-8

Marguery MC, Giordano F, Parant M, Samalens G, Levade T, Salvayre R et al. Fabry's disease: heterozygous form of different expression in two monozygous twin sisters. Dermatology 1993;187:9-15

Matsuura F, Ohta M, Ioannou YA, Desnick RJ. Human а-galactosidase A: characterization of the N-linked oligosaccharides on the intracellular and secreted glycoforms overexpressed by Chinese hamster ovary cells. Glycobiology 1998;8:329-39