In:
Clinical Case Reports, Wiley, Vol. 6, No. 9 ( 2018-09), p. 1871-1876
Abstract:
We report a Russian patient with atypical onset of infantile nephropathic cystinosis. The disease debuted with vomiting and loss of weight and motor skills. Nephropathic changes appeared 6 months after onset of disease. Exome sequencing can be useful for diagnosing cystinosis in patients with neurological abnormalities before onset of nephropathic symptoms.
Type of Medium:
Online Resource
ISSN:
2050-0904
,
2050-0904
DOI:
10.1002/ccr3.2018.6.issue-9
Language:
English
Publisher:
Wiley
Publication Date:
2018
detail.hit.zdb_id:
2740234-4