[Cystinosis in an adult].
The paper reports a case of cystinosis with the involvement of kidneys, myocardium and liver in a female of 43. Late development of kidney failure might be due to a partial deficiency of the enzyme responsible for a cystine transport in the cell.
Kir'ianov
N A
NA
Bazhenov
E L
EL
Stetsenko
E V
EV
D000328:Adult; D003554:Cystinosis / Q000150:complications / Q000473:pathology*; D005260:Female; D006801:Humans; D007668:Kidney / Q000473:pathology; D007676:Kidney Failure, Chronic / Q000201:enzymology / Q000209:etiology / Q000473:pathology; D008099:Liver / Q000473:pathology; D009206:Myocardium / Q000473:pathology; D011247:Pregnancy; D011248:Pregnancy Complications / Q000473:pathology
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