Infantile nephropathic cystinosis, an inborn error of metabolism with an autosomal recessive inheritance pattern, is characterized by lysosomal storage of the amino acid cystine due to an impaired transport of cystine out of the lysosomes. Initial clinical features consist of the renal Fanconi syndrome and crystals in the cornea. Oral therapy with cysteamine lowers the intracellular cystine content. Recently, the gene coding for the integral membrane protein cystinosin, which is responsible for membrane transport of cystine (CTNS), was cloned. Mutation analysis of the CTNS gene of Caucasian patients revealed a common 57-kb deletion, and several other mutations spread throughout the entire gene. In the present study, we developed an improved...
Cystinosis is an autosomal recessive lysosomal storage disease, caused by mutations in the CTNS gene...
Nephropathic cystinosis is a rare autosomal recessive disorder caused by mutations in the CTNS gene,...
Patient samples play an important role in the study of inherited metabolic disorders. Open-access bi...
Item does not contain fulltextInfantile nephropathic cystinosis, an inborn error of metabolism with ...
BACKGROUND: Cystinosis is an autosomal recessive lysosomal storage disorder characterized by accumul...
AbstractObjectiveNephropathic cystinosis is an autosomal recessive lysosomal storage disorder that i...
Cystinosis is an autosomal recessive disorder caused by an impaired transport of cystine out of lyso...
Nephropatic cystinosis (NC) is a rare disease associated with pathogenic variants in the CTNS gene, ...
Cystinosis is an inherited disorder characterized by defective lysosomal efflux of cystine. Three cl...
SummaryNephropathic cystinosis is an autosomal recessive lysosomal storage disease characterized by ...
Nephropathic cystinosis, an autosomal recessive disorder resulting from defective lysosomal transpor...
Cystinosis is an autosomal recessive lysosomal storage disease caused by mutations in the gene CTNS....
Introduction Nephropathic cystinosis (NC) is a rare, autosomal recessive disorder leading to lysosom...
Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS ...
Classic nephropathic or infantile cystinosis (NC) is an autosomal recessive disorder; the gene codin...
Cystinosis is an autosomal recessive lysosomal storage disease, caused by mutations in the CTNS gene...
Nephropathic cystinosis is a rare autosomal recessive disorder caused by mutations in the CTNS gene,...
Patient samples play an important role in the study of inherited metabolic disorders. Open-access bi...
Item does not contain fulltextInfantile nephropathic cystinosis, an inborn error of metabolism with ...
BACKGROUND: Cystinosis is an autosomal recessive lysosomal storage disorder characterized by accumul...
AbstractObjectiveNephropathic cystinosis is an autosomal recessive lysosomal storage disorder that i...
Cystinosis is an autosomal recessive disorder caused by an impaired transport of cystine out of lyso...
Nephropatic cystinosis (NC) is a rare disease associated with pathogenic variants in the CTNS gene, ...
Cystinosis is an inherited disorder characterized by defective lysosomal efflux of cystine. Three cl...
SummaryNephropathic cystinosis is an autosomal recessive lysosomal storage disease characterized by ...
Nephropathic cystinosis, an autosomal recessive disorder resulting from defective lysosomal transpor...
Cystinosis is an autosomal recessive lysosomal storage disease caused by mutations in the gene CTNS....
Introduction Nephropathic cystinosis (NC) is a rare, autosomal recessive disorder leading to lysosom...
Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS ...
Classic nephropathic or infantile cystinosis (NC) is an autosomal recessive disorder; the gene codin...
Cystinosis is an autosomal recessive lysosomal storage disease, caused by mutations in the CTNS gene...
Nephropathic cystinosis is a rare autosomal recessive disorder caused by mutations in the CTNS gene,...
Patient samples play an important role in the study of inherited metabolic disorders. Open-access bi...