Article
The molecular basis of Dutch infantile nephropathic cystinosis.
Nephron - 1 Sept 2001
Heil S G, Levtchenko E, Monnens L A, Trijbels F J, Van der Put N M, Blom H J
Abstract excerpt
Infantile nephropathic cystinosis, an inborn error of metabolism with an autosomal recessive inheritance pattern, is characterized by lysosomal storage of the amino acid cystine due to an impaired transport of cystine out of the lysosomes. Initial clinical features consist of the renal Fanconi syndrome and crystals in the cornea. Oral therapy with cysteamine lowers the intracellular cystine content. Recently, the...
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