Endocrine complications during and after adolescence in a patient with cystinosis
Cystinosis is a rare disease characterized by abnormal lysosomal cystine accumulation of cystine due to impaired lysosomal transport. We previously reported the first case of cystinosis in Korea in a 12-year-old boy with short stature, general weakness, and photophobia. The diagnosis was confirmed b...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
Korean Society of Pediatric Endocrinology
2016-09-01
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Series: | Annals of Pediatric Endocrinology & Metabolism |
Subjects: | |
Online Access: | http://e-apem.org/upload/pdf/apem-21-174.pdf |