Endocrine complications during and after adolescence in a patient with cystinosis

• Main Authors: Moon Bae Ahn (Author), Sung Eun Kim (Author), Won Kyoung Cho (Author), Min Ho Jung (Author), Byung Kyu Suh (Author)
• Formato: Livro
• Publicado em: Korean Society of Pediatric Endocrinology, 2016-09-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: 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...