Nephropathic cystinosis, an autosomal recessive disorder resulting from defective lysosomal
transport of cystine, is the most common inherited cause of renal Fanconi syndrome. The …

Nephropathic cystinosis is an autosomal recessive disorder that is characterized by
accumulation of intralysosomal cystine and is caused by a defect in the transport of cystine …

Cystinosis is a rare autosomal recessive disorder involving lysosomal storage of the amino
acid cystine due to a defect in the membrane transport protein, cystinosin. Since the …

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 an autosomal recessive lysosomal storage disease characterized
by renal failure at 10 years of age and other systemic complications. The gene for cystinosis …

Infantile nephropathic cystinosis is a rare, autosomal recessive disease caused by a defect
in the transport of cystine across the lysosomal membrane and characterized by early onset …

Cystinosis is an autosomal recessive metabolic disease that belongs to the family of
lysosomal storage disorders. It is caused by a defect in the lysosomal cystine transporter …

Cystinosis, a main cause of Fanconi syndrome, is reproduced in congenic C57BL/6
cystinosin knockout (KO) mice. To identify the sequence of pathogenic and adaptation …

Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in
the CTNS gene. Main dysfunction is a defective clearance of cystine from lysosomes that …