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?

Matsuzawa F, Aikawa SI, Doi H, Okumiya T, Sakuraba H. Fabry disease: correlation between structural changes in а-galactosidase, and clinical and biochemical phenotypes. Hum Genet2005;117:317-28

Mayes JS, Scheerer JB, Sifers RN, Donaldson ML. Differential assay for lysosomal а-galactosidases in human tissues and its application to Fabry's disease. Clin Chim Acta 1981; 112:247-51

Mehta A, Ginsberg L. Natural history of the cerebrovascular complications of Fabry disease. Acta Paediatr 2005;94 (Suppl 447):24-7

Mehta A, Ricci R, Widmer U, Dehout F, Garcia de Lorenzo A, Kampmann C et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 2004;34:236-42

Mehta J, Tuna N, Moller JH, Desnick RJ. Electrocardiographic and vectorcardiographic abnormalities in Fabry's disease. Am Heart J 1977;93:699-705

Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 1999;281:249-54

Mendez MF, Stanley TM, Medel NM, Li Z, Tedesco DT. The vascular dementia of Fabry's disease. Dement Geriatr Cogn Disord 1997;8:252-7

Meroni M, Sessa A, Battini G, Tazzari S, Torri Tarelli L. Kidney involvement in Anderson-Fabry disease. Contrib Nephrol 1997;122:178-84

Mignani R, Panichi V, Giudicissi A, Taccola D, Boscaro F, Feletti C et al. Enzyme replacement therapy with agalsidase beta in kidney transplant patients with Fabry disease: a pilot study. Kidney Int 2004;65:1381-5

Mills K, Vellodi A, Morris P, Cooper D, Morris M, Young E et al. Monitoring the clinical and biochemical response to enzyme replacement therapy in three children with Fabry disease. Eur JPediatr 2004;163:595-603

Miners AH, Holmes A, Sherr L, Jenkinson C, MacDermot KD. Assessment of health-related quality-of-life in males with Anderson-Fabry disease before therapeutic intervention. Qual Life Res 2002;11:127-33

Mitsias P, Levine SR. Cerebrovascular complications of Fabry's disease. Ann Neurol 1996;40:8-17

Miyatake T, Atsumi T, Obayashi T, Mizuno Y, Ando S, Ariga T et al. Adult type neuronal storage disease with neuraminidase deficiency. Ann Neurol 1979;6:232-44

Mohrenschlager M, Braun-Falco M, Ring J, Abeck D. Fabry disease: recognition and management of cutaneous mani­festations. Am J Clin Dermatol 2003;4:189-96

Moore DF, Altarescu G, Herscovitch P, Schiffmann R. Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease. BMC Neurol 2002a;2:4

Moore DF, Altarescu G, Ling GS, Jeffries N, Frei KP, Weibel T et al. Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. Stroke 2002b; 33:525-31

Moore DF, Herscovitch P, Schiffmann R. Selective arterial distribution of cerebral hyperperfusion in Fabry disease. J Neuroimaging 2001a;11:303-7

Moore DF, Scott LT, Gladwin MT, Altarescu G, Kaneski C, Suzuki K et al. Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy. Circulation 2001b;104:1506-12

Moore DF, Ye F, Schiffmann R, Butman JA. Increased signal intensity in the pulvinar on T1-weighted images: a pathogno­monic MR imaging sign of Fabry disease. Am J Neuroradiol 2003;24:1096-101

Morgan SH, Crawfurd MA. Anderson-Fabry disease. BMJ 1988;297:872-3

Morgan SH, Rudge P, Smith SJ, Bronstein AM, Kendall BE, Holly E et al. The neurological complications of Anderson- Fabry disease (а-galactosidase A deficiency) – investigation of symptomatic and presymptomatic patients. QJ Med 1990; 75:491-507

Страницы:
←3456
8
101112→
из 12