Add to ORKGNephropatic cystinosis (NC) is a rare disease associated with pathogenic variants in the CTNS gene, with a common variant that consists of a 57kb-deletion involving CTNS. Patients with NC that are treated with cysteamine improve their life quality and expectancy. We report a 12-month-old girl with a poor growth rate since the 4th month of life. She was admitted to the Hospital with acute kidney injury, severe dehydration and metabolic acidosis. She was treated with volume restorative and bicarbonate. Proximal tubulopathy and Fanconi's syndrome was diagnosed. Medical treatment improved renal function that was stabilized in stage 4 chronic kidney disease (CKD). Since infantile NC was suspected, CTNS genetic analysis was considered. Genomic DN...
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 ...
Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/...
BACKGROUND: Cystinosis is an autosomal recessive lysosomal storage disorder characterized by accumul...
Nephropathic cystinosis is a rare disease secondary to recessive mutations of the CTNS gene encoding...
Background and objectives: Cystinosis is an autosomal recessive disease characterized by the intraly...
Nephropathic cystinosis is a rare disease secondary to recessive mutations of the CTNS gene encoding...
Nephropathic cystinosis is a rare disease secondary to recessive mutations of the CTNS gene encoding...
Nephropathic cystinosis is a rare disease secondary to recessive mutations of the CTNS gene encoding...
Cystinosis is an autosomal recessive lysosomal storage disease caused by mutations in the gene CTNS....
Item does not contain fulltextWe report the molecular findings for the CTNS gene in 12 Turkish cysti...
Nephropathic cystinosis is rare genetic disease characterized by defective lysosomal cystine transpo...
We report the molecular findings for the CTNS gene in 12 Turkish cystinosis patients aged 7-29 years...
Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/...
We report the molecular findings for the CTNS gene in 12 Turkish cystinosis patients aged 7-29 years...
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 ...
Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/...
BACKGROUND: Cystinosis is an autosomal recessive lysosomal storage disorder characterized by accumul...
Nephropathic cystinosis is a rare disease secondary to recessive mutations of the CTNS gene encoding...
Background and objectives: Cystinosis is an autosomal recessive disease characterized by the intraly...
Nephropathic cystinosis is a rare disease secondary to recessive mutations of the CTNS gene encoding...
Nephropathic cystinosis is a rare disease secondary to recessive mutations of the CTNS gene encoding...
Nephropathic cystinosis is a rare disease secondary to recessive mutations of the CTNS gene encoding...
Cystinosis is an autosomal recessive lysosomal storage disease caused by mutations in the gene CTNS....
Item does not contain fulltextWe report the molecular findings for the CTNS gene in 12 Turkish cysti...
Nephropathic cystinosis is rare genetic disease characterized by defective lysosomal cystine transpo...
We report the molecular findings for the CTNS gene in 12 Turkish cystinosis patients aged 7-29 years...
Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/...
We report the molecular findings for the CTNS gene in 12 Turkish cystinosis patients aged 7-29 years...
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 ...
Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/...