Results 151 to 160 of about 6,138 (207)
Liver Transplant From a Deceased Donor With Cystinosis: A Case Report. [PDF]
JIMD RepTaj R +14 more
europepmc +1 more source
Theranostic Contact Lens for Ocular Cystinosis Utilizing Gold Nanoparticles. [PDF]
Biosensors (Basel)Ha E, Kang H, Noh H.
europepmc +1 more source
Ocular Involvement in Infantile Cystinosis: A Case Report. [PDF]
CureusRazzak A +3 more
europepmc +1 more source
Let Food Be Thy Medicine: Potential of Dietary Management in Cystinosis. [PDF]
J Am Soc NephrolLevtchenko E, Arcolino FO.
europepmc +1 more source
Some of the next articles are maybe not open access.
Related searches:
Related searches:
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
2018
Cystinosis is a rare autosomal recessive disease caused by mutations in the lysosomal cystine transporter cystinosin encoded by the CTNS gene (17p.13.2). Cystinosis is characterized by lysosomal cystine accumulation throughout the body with renal Fanconi syndrome being the most common presenting symptom of a multisystem disorder.
Elena N. Levtchenko, Mirian C. Janssen
openaire +2 more sources
Cystinosis is a rare autosomal recessive disease caused by mutations in the lysosomal cystine transporter cystinosin encoded by the CTNS gene (17p.13.2). Cystinosis is characterized by lysosomal cystine accumulation throughout the body with renal Fanconi syndrome being the most common presenting symptom of a multisystem disorder.
Elena N. Levtchenko, Mirian C. Janssen
openaire +2 more sources