Endocrine complications during and after adolescence in a patient with cystinosis

• Hlavní autoři: Moon Bae Ahn (Autor), Sung Eun Kim (Autor), Won Kyoung Cho (Autor), Min Ho Jung (Autor), Byung Kyu Suh (Autor)
• Médium: Kniha
• Vydáno: Korean Society of Pediatric Endocrinology, 2016-09-01T00:00:00Z.
• Témata: article
• On-line přístup: Connect to this object online.

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...