[Fabry disease].
Fabry disease is a rare genetic disorder, which is linked to a defect of alfa-galactosidase. In consequence it leads to an excess of glicosphyngolipids in lysosomes of various tissues and organs. Clinical symptoms are related to heart, skin, kidneys and nervous system. Nowadays due to a possibility of substitution of galactosidase A, a influence on clinical course of the disease can be attained: arresting of progression and avoidance of complications.
Jakubowska
Ewa
E
Oddział Nefrologiczny z Pododdziałem Diabetologicznym i Transplantacyjnym, Wrocław.
Ryba
Monika
M
Hruby
Zbigniew
Z
D018450:Disease Progression; D000795:Fabry Disease / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy; D005260:Female; D015316:Genetic Therapy; D006801:Humans; D007527:Isoenzymes / Q000235:genetics / Q000627:therapeutic use; D007668:Kidney / Q000378:metabolism; D008247:Lysosomes / Q000378:metabolism; D008297:Male; D035583:Rare Diseases / Q000378:metabolism; D012867:Skin / Q000378:metabolism; D014281:Trihexosylceramides / Q000378:metabolism*; D000519:alpha-Galactosidase / Q000235:genetics* / Q000627:therapeutic use*
D007527:Isoenzymes; D014281:Trihexosylceramides; D000519:alpha-Galactosidase