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?

Grewal RP, Barton NW. Fabry's disease presenting with stroke. Clin NeurolNeurosurg 1992;94:177-9

Groth CG, Ringden O. Transplantation in relation to the treatment of inherited disease. Transplantation 1984; 38:319-27

Guffon N, Fouilhoux A. Clinical benefit in Fabry patients given enzyme replacement therapy – a case series. J Inherit Metab Dis 2004;27:221-7

Hacein-Bey-Abina S, von Kalle C, Schmidt M, Le Deist F, Wulffraat N, McIntyre E et al. A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency. N Engl J Med 2003;348:255-6

Hajioff D, Enever Y, Quiney R, Zuckerman J, Mackermot K, Mehta A. Hearing loss in Fabry disease: the effect of agalsidase alfa replacement therapy. J Inherit Metab Dis 2003a;26:787-94

Hajioff D, Goodwin S, Quiney R, Zuckerman J, MacDermot KD, Mehta A. Hearing improvement in patients with Fabry disease treated with agalsidase alfa. Acta Paediatr Suppl 2003b;92:28-30

Hauser AC, Gessl A, Lorenz M, Voigtlander T, Fodinger M, Sunder-Plassmann G. High prevalence of subclinical hypothyroidism in patients with Anderson-Fabry disease. J Inherit Metab Dis 2005;28:715-22

Hilz MJ, Brys M, Marthol H, Stemper B, Dutsch M. Enzyme replacement therapy improves function of C-, Adelta-, and Abeta-nerve fibers in Fabry neuropathy. Neurology 2004; 62:1066-72

Hilz MJ, Stemper B, Kolodny EH. Lower limb cold exposure induces pain and prolonged small fiber dysfunction in Fabry patients. Pain 2000;84:361-5

Ho MW, Beutler S, Tennant L, O'Brien JS. Fabry's disease: evidence for a physically altered а-galactosidase. Am J Hum Genet 1972;24:256-66

Hobbs ER, Ratz JL. Argon laser treatment of angiokeratomas. J Dermatol Surg Oncol 1987;13:1319-20

Hoffmann B, Garcia de Lorenzo A, Mehta A, Beck M, Widmer U, Ricci R. Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey). J Med Genet 2005;42:247-52

Hoffmann B, Reinhardt D, Koletzko B. Effect of enzyme- replacement therapy on gastrointestinal symptoms in Fabry disease. Eur J Gastroenterol Hepatol 2004;16:1067-9

Hoogerbrugge PM, Valerio D. Bone marrow transplantation and gene therapy for lysosomal storage diseases. Bone Marrow Transplant 1998;21 Suppl 2:S34-6

Hornbostel H, Scriba K. [Excision of skin in diagnosis of Fabry's angiokeratoma with cardio-vasorenal syndrome as phosphatide storage disease]. Klin Wochenschr 1953;31:68-9

Hughes DA, Mehta AB. Vascular complications of Fabry disease: enzyme replacement and other therapies. Acta Paediatr Suppl 2005 ;94:28-33

Ichinose M, Nakayama M, Ohashi T, Utsunomiya Y, Kobayashi M, Eto Y. Significance of screening for Fabry disease among male dialysis patients. Clin Exp Nephrol 2005;9:228-32

Ikari Y, Kuwako K, Yamaguchi T. Fabry's disease with complete atrioventricular block: histological evidence of involvement of the conduction system. Br Heart J 1992; 68:323-5

Imperial R, Helwig EB. Angiokeratoma of the scrotum (Fordyce type). J Urol 1967;98:379-87

Ioannou YA, Zeidner KM, Grace ME, Desnick RJ. Human а-galactosidase A: glycosylation site 3 is essential for enzyme solubility. Biochem J 1998;332(Pt 3):789-97

Ishii S, Yoshioka H, Mannen K, Kulkarni AB, Fan JQ. Transgenic mouse expressing human mutant а-galactosidase A in an endogenous enzyme deficient background: a biochemical animal model for studying active-site specific chaperone therapy for Fabry disease. Biochim Biophys Acta 2004;1690:250-7

Jack CI, Morris AI, Nasmyth DG, Carroll N. Colonic involvement in Fabry's disease. Postgrad Med J 1991;67:584-5

Jansen T, Bechara FG, Altmeyer P. Angiokeratomas: symptoms, diagnosis and therapy. Danderyd, Sweden: TKT Europe – 5S AB; 2004

Страницы:
←123
5
78910→
из 12