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| First Page | Document Content | |
|---|---|---|
 Date: 2011-05-30 09:57:10Cystinosis CTNS Transaldolase Genetics Medical genetics Cysteamine Deletion Lysosomal storage disease Sedoheptulokinase Medicine Chemistry Health |
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| First Page | Document Content | |
|---|---|---|
Date: 2011-05-30 09:57:10Cystinosis CTNS Transaldolase Genetics Medical genetics Cysteamine Deletion Lysosomal storage disease Sedoheptulokinase Medicine Chemistry Health |
|
Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: Implications for diagnostics and neonatal screening