Endocrine complications during and after adolescence in a patient with cystinosis

• Autori principali: Moon Bae Ahn (Autore), Sung Eun Kim (Autore), Won Kyoung Cho (Autore), Min Ho Jung (Autore), Byung Kyu Suh (Autore)
• Natura: Libro
• Pubblicazione: Korean Society of Pediatric Endocrinology, 2016-09-01T00:00:00Z.
• Soggetti: article
• Accesso online: 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...