MINERVA PEDIATRICA, vol.66, no.2, pp.123-130, 2014 (SCI-Expanded)
Aim. Cystinosis is a rare autosomal recessive disorder that is characterized by defective cystine transport from lysosomes to cytoplasm and cystine crystal accumulation damaging many organs and tissues especially kidneys but extrarenal systems such as endocrine system. We aim to investigate endocrinologic complications of cystinosis