Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой
Нэвтрэх / Бүртгүүлэх
OBJECTIVE
Cystinosis is an autosomal recessive inherited lysosomal storage disease with an incidence of 1:100.000 up to 1:200.000 caused by a gene mutation of a lysosomal transport protein resulting in deposition of cystine in lysosomes in all cells and tissues. In the cornea, crystalline, gold-dust
Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой
Нэвтрэх / Бүртгүүлэх
An 11 year old boy with nephropathic cystinosis developed moderate to severe bilateral optic disc edema two months after he received a deceased donor renal allograft. The bilateral optic disc edema was found to be a result of intracranial hypertension diagnosed by lumbar puncture. No etiology was