Fabryn tauti – kirjallisuusviitteet Anderson W: A case of angiokeratoma. Br J Dermatol 10: 113, 1898 Fabry J: Beitrag Zur Kenntnis de Purpura haemorrhagica nodularis (purpura papulosa hemorrgagica Hebrae). Arch Dermatol Syph 43: 187, 1898 Pompen AWM et al., Angiokeratoma corporis diffunsum (universale) Fabry, as a sign of an unknown internal disease: Two autopsy reports. Acta Med Scand 128: 234, 1947 Opitz JM et al., The genetics of angiokeratoma corporis diffusum (Fabry´s disease), and its linkage with Xg(a)locus. Am J Hum Genet 17 325, 1965 Sweeley CC et al., Fabry´s disease: Classification as a sphingolipidosis and partial characterization of a novel glykolipid. J Biol Chem 238: 3148, 1963 Brady RO et al., Enzymatic defect in Fabry`s disease: Ceramide trihexosodase deficiency. N Engl J Med 276: 1163, 1967 Bishop D et al., Human alfa-galactosidase A: Nucleotide sequence of a DNA clone encode the mature enzyme. Proc Natl Acad Sci. 83: 4859 – 4863, 1986 Nikoskelainen E et al., Fabryn tauti – monimuotoinen yleissairaus. Duodecim 105: 1322 – 1328, 1989 Ellerder M et al., Cardiocyte storage and hypertrophy as a sole manifestation of Fabry´s disease. Virchows Archiv A Pathol Anat 417: 449 – 455, 1990 Hasholt L et al., A Fabry`s disease heterozygote with a new mutation: biochemical, ultrastructural, and clinical investigations. J Med Genet 27: 303 – 306, 1990 Inagaki M et al., Relief of chronic burning pain in Fabry disease with neurotropin. Pediatr Neurol 6 : 211 – 213, 1990 Morgan SH et al., The Neurological complications of Anderson-Fabry disease (-Galactosidase A Deficiency) – Investigation of symptomatic and presymptomatic patients. Quarterly J Med, New Series 75 (227) 491 – 504, 1990 von Scheidt W et al., An atypical variant of Fabry´s disease with manifestations confined to the myocardium. New Engl J Med 324 (6): 395 – 399, 1991 Abe H et al., Ischemic optic neuropathy in a female carrier with Fabry´s disease. Ophtalmologica 205: 83 – 88, 1992 Fischer EA et al., An unusual cause of severe coronary disease in a young man. Annals Inter Med 117: 221 – 223, 1992 Inaoki M et al., Two cases of Fabry´s Disease: A hemizygote with a point mutation in the Galactosidase A gene and his relative. Jour Dermatology 19: 481 – 486, 1992 Paira SO et al., Joint manifestations of Fabry`disease. Clinical rheumatology 11 (4 ): 562 – 565, 1992 Desnick RJ: Fabry disease: Alpha-Galactosidase A deficiency. Kirjassa: The molecular and genetic basis of neurological disease., sivut 505 – 513. Toim: Rosenberg RN et al., ButterworthHeinemann, 1993 1 Eng CM et al., Nature and frequency of mutations in the -Galactosidasee gene that cause Fabry disease. Am J Hum Genet 53: 1186 – 1197, 1993 Kanzaki T et al., Angiokeratoma corporis diffusum with glycopeptiduria due to deficient lysosomal -N-Acetylgalactosaminidase activity. Clinical, morphologic, and biochemical studies. Arch Dermatol 129: 460 – 465, 1993 Marquery MC et al., Fabry´s Disease: Heterozygous form of different expression in two monozygous twin sisters. Dermatology 187: 9 – 15, 1993 Brady RO and Barton NW: Development of effective enzyme therapy for metabolic storage disorders. Int Pediatr 9 ( 3 ): 175 – 180, 1994 Eng CM et al., Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the -galactosidase A gene. Hum Mol Genet 3 (10 ): 1795 – 1799, 1994 Grewal RP: Stroke in Fabry`s disease. J Neurol 241: 153 – 156, 1994 Nakao S et al., An atypical variant of Fabry´s disease in men with left ventricular hypertrophy. New Engl J Med 333: 288 – 293, 1995 Mitsias P and Levine SR: Cerebrovascular complications of Fabry`s disease. Ann Neurol 40 : 8 – 17, 1996 Pohjola-Sintonen S ja Törnroth T: Vuosia jatkuneet rytmihäiriöt ja ihottuma. Duodecim 113 (8): 747 -, 1997 Crutchfield KE et al., Quantitative analysis of cerebral vasculopathy in patients with Fabry disease. Neurology 50: 1746 – 1749, 1998 Murata R et al., Fifteen-year follow-up of a heterozygous Fabry´s disease patient associated with pre-excitation syndrome. Int Med 38: 476 – 481, 1999 Ziegler RJ et al., Correction of enzymatic and lysosomal storage defects in Fabry mice by adenovirus-mediated gene Transfer. Human Gene Therapy 10: 1667 – 1682, 1999 Takenaka T et al., Circulating -Galactosidase A Derived from Transduced Bone Marrow Cells: Relevance for Corrective Gene Transfer for Fabry Disease. Human Gene Therapy 10: 1931 – 1939, 1999 Tedeschi G et al., Diffuse central neuronal involvement in Fabry disease. A proton MRS imaging study. Neurology 52: 1663 – 1667, 1999 Hilz MJ et al., Lower limb cold exposure induces pain and prolonged small fiber dysfunction in Fabry patients. Pain 84: 361 – 365, 2000 Eng CM et al., Safety and efficacy of recombinant human α-galactosidase A replacement therapy in Fabry´s disease. N Engl J Med 345: 9 – 16, 2001 Eng CM et al., 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, 2001 Ioannou YA et al., Fabry disease: Preclinical studies demonstrate the effectiviness of αgalactosidase a replacement in enzyme-deficient mice. Am J Hum Genet 68: 14 – 25, 2001 Kaye EM: Lysosomal Storage diseases. Curr Treat Options Neurol 3(3): 249 – 256, 2001 2 MacDermot KD et alet al., Natural history of Fabry disease in affected males and obligate carrier females. J Inherit Metab Dis 24 (Suppl. 2): 13 – 14, 2001 MacDermot KD et al., Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 38: 750 – 760, 2001 MacDermot J and MacDermot KD: Neuropathic pain in Anderson-Fabry disease: pathology and therapeutic options. Review. Eur J Pharm 429: 121 – 125, 2001 Desnick RJ et al., Enzyme replacement therapy for Fabry disease, an inherited nephropathy. Review. Clinical Neph 57 (1): 1 – 8, 2002 Federico A: Fabry´s disease and cereberovascular disorders. Neurol Sci 23 (2): 47 – 48, 2002 Germain DP: Fabry disease: recent advances in enzyme replacement therapy. Exp Opin Inv Druggs 11 (10): 1467 – 1476, 2002 Kapmann C et al., The heart in Anderson Fabry disease. Z Kardiol 91 (10): 786 – 795, 2002 Miners AH et al., Assessment of health-related quality-of-life in males with Anderson Fabry Disease before therapeutic intervention. Quality of Life Res 11: 127 – 133, 2002 Thurberg BL et al., Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int 62: 1933 – 1946, 2002 Veinot JP: Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 106 (15): e73, 2002 Desnick RJ et al., Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management and enzyme replacement therapy. Ann Intern Med 138: 338-346, 2003 Penttinen M et al., Fabryn tauti ja suositus sen diagnostiikasta, seurannasta ja hoitolinjoista Suomessa. Duodecim 120: 2407-2417, 2004 3