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Lysosomal transport disorders: Cystinosis and sialic acid storage disorders
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Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
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Cystinosis: Intracellular cystine depletion by aminothiols in vitro and in vivo
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Binding assays for amino acids. The utilization of a cystine binding protein from Escherichia coli for the determination of acid-soluble cystine in small physiological samples
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Fully automated assay for total homocysteine, cysteine, cysteinylglycine, glutathione, cysteamine and 2-mercaptopropionylglycine in plasma and urine
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Pyroglutamic aciduria and nephropathic cystinosis
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An improved method for heterozygote detection of cystinosis, using polymorphonuclear leukocytes
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Glutathione synthetase deficiency and other disorders of the g-glutamyl cycle
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Determination of reduced, oxidized and protein-bound glutathione in human plasma with precolumn derivatization with monobromobimane and liquid chromatography
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