Results 141 to 150 of about 5,039 (197)
The utility and advantages of exome and genome sequencing in pediatric kidney disease diagnosis. [PDF]
Child Kidney DisJang S, Lee H.
europepmc +1 more source
Pediatric cystinosis: Corneal cystine deposits and papilledema in a 4-year-old: A case report. [PDF]
Med Int (Lond)Choudhary DS +4 more
europepmc +1 more source
Optimizing Long-Term Outcomes in Cystinosis With Comprehensive Patient-Centered Care. [PDF]
Kidney Int RepElenberg E.
europepmc +1 more source
Impact of Early Versus Late Diagnosis on Disease Progression in Cystinosis. [PDF]
Kidney Int RepBenfield MR.
europepmc +1 more source
CTNS mutations in patients with cystinosis†
Human Mutation, 1999 Cystinosis is an autosomal recessive lysosomal storage disease caused by mutations in the gene CTNS. The CTNS gene product, cystinosin, has 367 amino acids and seven transmembrane domains and is thought to transport cystine out of lysosomes.
Vorasuk Shotelersuk +2 more
exaly +2 more sources
Nephropathic cystinosis: an international consensus document. [PDF]
Nephrology Dialysis Transplantation, 2014 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 inherited renal Fanconi syndrome in young children.
Elke Wühl, William A Gahl, Paul Goodyer
exaly +2 more sources
Some of the next articles are maybe not open access.
Related searches:
Related searches:
Journal of the American Medical Association, 1957
• In contrast to the disease in children, which is usually fatal, cystinosis (deposits of cystine crystals in tissues of the body) in the two reported instances occurring in adults was a relatively benign condition. This condition, sometimes called Lignac-Fanconi syndrome, should not be confused with benign cystinuria of adults, in which the cystine ...
D G, COGAN +4 more
openaire +2 more sources
• In contrast to the disease in children, which is usually fatal, cystinosis (deposits of cystine crystals in tissues of the body) in the two reported instances occurring in adults was a relatively benign condition. This condition, sometimes called Lignac-Fanconi syndrome, should not be confused with benign cystinuria of adults, in which the cystine ...
D G, COGAN +4 more
openaire +2 more sources
Journal of Inherited Metabolic Disease, 1995
SummaryNephropathic cystinosis is an autosomal recessive inborn error of metabolism characterized by the lysosomal storage of the disulphide amino acid cystine. It produces a variety of clinical manifestations including failure to thrive, the renal Fanconi syndrome, eye findings, and end‐stage renal disease.
openaire +3 more sources
SummaryNephropathic cystinosis is an autosomal recessive inborn error of metabolism characterized by the lysosomal storage of the disulphide amino acid cystine. It produces a variety of clinical manifestations including failure to thrive, the renal Fanconi syndrome, eye findings, and end‐stage renal disease.
openaire +3 more sources