Add to ORKGInfantile cystinosis is a rare disorder which leftuntreated results in end -stage renal disease early in life. Together with dehydration and electrolyte imbalance due to renal tubular Fanconi syndrome, endstage renal disease used to be the leading cause of death in children with cystinosis. Specific therapy with cysteamine (cystine -depleting agent) has changed the course of this disease. Instead of being fatal in childhood, it can nowadays be considered a multisystemic adult disorder. The authors report a case of a child diagnosed with Fanconi syndrome at 14 months of age and infantile cystinosis at 19 months of age in whom oral cysteamine treatment led to a good outcome during childhood
Abstract Cystinosis is the major cause of inherited Fanconi syndrome, and should be suspected in you...
Nephropathic cystinosis, an autosomal recessive storage disease, is the most common cause of the ren...
Cystinosis is a rare, multisystem lysosomal storage disorder, which is first manifested in early chi...
Infantile cystinosis is a rare disorder which leftuntreated results in end -stage renal disease earl...
Cystinosis is a rare autosomal recessive lysosomal storage disorder leading to end-stage renal disea...
Cystinosis is the major cause of inherited Fanconi syndrome, and should be suspected in young childr...
Contains fulltext : 97776.pdf (publisher's version ) (Closed access)Cystinosis is ...
Introduction. Infantile nephropathic cystinosis (INC) is a metabolic disorder due to impaired carri...
Cystinosis is a rare autosomal recessive disorder characterized by the intralysosomal accumulation o...
Cystinosis is a rare autosomal recessive disorder characterized by the intralysosomal accumulation o...
Cystinosis is a rare autosomal recessive disorder characterized by the intralysosomal accumulation o...
Cystinosis is a rare autosomal recessive disorder characterized by the intralysosomal accumulation o...
Cystinosis is a rare autosomal recessive disorder characterized by the intralysosomal accumulation o...
Cystinosis is a rare autosomal recessive disorder characterized by the intralysosomal accumulation o...
Cystinosis is a rare autosomal recessive disorder characterized by the intralysosomal accumulation o...
Abstract Cystinosis is the major cause of inherited Fanconi syndrome, and should be suspected in you...
Nephropathic cystinosis, an autosomal recessive storage disease, is the most common cause of the ren...
Cystinosis is a rare, multisystem lysosomal storage disorder, which is first manifested in early chi...
Infantile cystinosis is a rare disorder which leftuntreated results in end -stage renal disease earl...
Cystinosis is a rare autosomal recessive lysosomal storage disorder leading to end-stage renal disea...
Cystinosis is the major cause of inherited Fanconi syndrome, and should be suspected in young childr...
Contains fulltext : 97776.pdf (publisher's version ) (Closed access)Cystinosis is ...
Introduction. Infantile nephropathic cystinosis (INC) is a metabolic disorder due to impaired carri...
Cystinosis is a rare autosomal recessive disorder characterized by the intralysosomal accumulation o...
Cystinosis is a rare autosomal recessive disorder characterized by the intralysosomal accumulation o...
Cystinosis is a rare autosomal recessive disorder characterized by the intralysosomal accumulation o...
Cystinosis is a rare autosomal recessive disorder characterized by the intralysosomal accumulation o...
Cystinosis is a rare autosomal recessive disorder characterized by the intralysosomal accumulation o...
Cystinosis is a rare autosomal recessive disorder characterized by the intralysosomal accumulation o...
Cystinosis is a rare autosomal recessive disorder characterized by the intralysosomal accumulation o...
Abstract Cystinosis is the major cause of inherited Fanconi syndrome, and should be suspected in you...
Nephropathic cystinosis, an autosomal recessive storage disease, is the most common cause of the ren...
Cystinosis is a rare, multisystem lysosomal storage disorder, which is first manifested in early chi...