Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children. It is
an autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene …

Cystinosis is caused by mutations in the CTNS gene (17p13. 2), which encodes for a
lysosomal cystine/proton symporter termed cystinosin. It is the most common cause of …

Nephropathic cystinosis is a rare disease secondary to recessive mutations of the CTNS
gene encoding the lysosomal cystine transporter cystinosin, causing accumulation of cystine …

Introduction The digitalization of medicine has led to a considerable growth of
heterogeneous health datasets, which could improve healthcare research if integrated into …

Cystinosis is a rare autosomal-recessive lysosomal storage disease with high morbidity and
mortality. It is caused by mutations in the CTNS gene that encodes the cystine transporter …

Background In recent years, increased efforts have been undertaken to address the needs
of patients with rare diseases by international initiatives and consortia devoted to rare …

Mutations in the CTNS gene encoding the lysosomal membrane cystine transporter
cystinosin are the cause of cystinosis, an autosomal recessive lysosomal storage disease …

Nephropathic cystinosis is an autosomal recessive metabolic, lifelong disease characterized
by lysosomal cystine accumulation throughout the body that commonly presents in infancy …

Background Cysteamine has improved survival and prognosis in cystinosis. Increasing
numbers of patients reach adulthood and face new challenges such as compliance that …

The development of alternative therapeutic monitoring strategies and new systemic and
ocular cysteamine formulations might improve outcome of cystinosis patients in the near …