P K de Bree

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Patients with inherited adenylosuccinase deficiency excrete large quantities of succinyloaminoimidazolecarboxamide riboside (SAICAR) and succinyloadenosine (SAdo). A two-dimensional thin-layer(More)
In the urine of a neonate with respiratory insufficiency and convulsions a positive sulfite reaction was found, which is suggestive of sulfite oxidase deficiency. The nitroprusside reaction also was(More)