[Cystinosis--a treatable disease due to defective lysosomal transporter protein].
Nuutinen
Matti
M
OYS, lasten ja nuorten tulosyksikkö PL 23, 90029 OYS. matti.nuutinen@ppshp.fi
D000293:Adolescent; D003554:Cystinosis / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics*; D004359:Drug Therapy, Combination; D005387:Finland; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008247:Lysosomes / Q000235:genetics*; D008297:Male; D018570:Risk Assessment; D012720:Severity of Illness Index; D016896:Treatment Outcome