Background. Cystinosis is a rare autosomal recessive disease, caused by intracellular cystine accumulation due to a defect in the lysosomal cystine carrier. Treatment with cysteamine favours the transport of cystine out of the lysosomes, diminishes organ damage, and postpones the progression of renal failure. The extra-renal deposition of cystine continues after renal transplantation, leading to later complications. The objective of this study was to evaluate the follow-up, the occurrence of late complications, the social status, and the adequacy of cysteamine treatment in adult patients with cystinosis. Methods. The medical histories of 10 adult cystinosis patients aged 19–36 years were studied. The impair-ment of thyroid function, central...
Cystinosis is an autosomal recessive inherited lysosomal storage disease. It is characterized by gen...
Abstract Cystinosis is a rare autosomal recessive disorder involving lysosomal storage of the amino ...
Cystinosis is an autosomal recessive inherited lysosomal storage disease. It is characterized by gen...
Item does not contain fulltextBACKGROUND: Cystinosis is a rare autosomal recessive disease, caused b...
BACKGROUND: Cystinosis is a rare autosomal recessive disease, caused by intracellular cystine accumu...
Cystinosis is a rare, autosomal recessive inherited lysosomal storage disease. It is the most freque...
Background: Cystinosis is a rare lysosomal disorder leading to end stage renal disease in more than ...
Cystinosis is a rare, autosomal recessive inherited lysosomal storage disease. It is the most freque...
Cystinosis is a rare autosomal-recessive lysosomal storage disease with high morbidity and mortality...
Contains fulltext : 49692.pdf (publisher's version ) (Closed access)Cystinosis is ...
Cystinosis is an autosomal recessive inherited lysosomal storage disease. It is characterized by gen...
Nephropathic cystinosis is a multisystem autosomal recessive disease caused by cystine accumulation,...
Cystinosis is an autosomal recessive inherited lysosomal storage disease. It is characterized by gen...
Cystinosis is an autosomal recessive inherited lysosomal storage disease. It is characterized by gen...
Summary: Cysteamine bitartrate capsules (Cystagon) have been approved by the US Food and Drug Admini...
Cystinosis is an autosomal recessive inherited lysosomal storage disease. It is characterized by gen...
Abstract Cystinosis is a rare autosomal recessive disorder involving lysosomal storage of the amino ...
Cystinosis is an autosomal recessive inherited lysosomal storage disease. It is characterized by gen...
Item does not contain fulltextBACKGROUND: Cystinosis is a rare autosomal recessive disease, caused b...
BACKGROUND: Cystinosis is a rare autosomal recessive disease, caused by intracellular cystine accumu...
Cystinosis is a rare, autosomal recessive inherited lysosomal storage disease. It is the most freque...
Background: Cystinosis is a rare lysosomal disorder leading to end stage renal disease in more than ...
Cystinosis is a rare, autosomal recessive inherited lysosomal storage disease. It is the most freque...
Cystinosis is a rare autosomal-recessive lysosomal storage disease with high morbidity and mortality...
Contains fulltext : 49692.pdf (publisher's version ) (Closed access)Cystinosis is ...
Cystinosis is an autosomal recessive inherited lysosomal storage disease. It is characterized by gen...
Nephropathic cystinosis is a multisystem autosomal recessive disease caused by cystine accumulation,...
Cystinosis is an autosomal recessive inherited lysosomal storage disease. It is characterized by gen...
Cystinosis is an autosomal recessive inherited lysosomal storage disease. It is characterized by gen...
Summary: Cysteamine bitartrate capsules (Cystagon) have been approved by the US Food and Drug Admini...
Cystinosis is an autosomal recessive inherited lysosomal storage disease. It is characterized by gen...
Abstract Cystinosis is a rare autosomal recessive disorder involving lysosomal storage of the amino ...
Cystinosis is an autosomal recessive inherited lysosomal storage disease. It is characterized by gen...