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Article
Erratum: Global threats to human water security and river biodiversity
Nature 467, 555–561 (2010) In this Article, the full present address for author P. B. McIntyre was inadvertently missing from the bottom of the page. The correct present address is: Center for Limnology, Unive...
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Article
Global threats to human water security and river biodiversity
Protecting the world’s freshwater resources requires diagnosing threats over a broad range of scales, from global to local. Here we present the first worldwide synthesis to jointly consider human and biodivers...
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Chapter
Plasma Uridine as well as Uric Acid is Elevated Following Fructose Loading
The hyperuricaemia following fructose loading was first demonstrated by Perheen-tupa and Raivio in 1967 (1). Subsequent studies (reviewed in 2) established that this elevation of plasma and urine uric acid con...
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Article
Urinary uracil concentrations are a useful guide to genetic disorders associated with neurological deficits and abnormal pyrimidine metabolism
Elevated urinary uracil concentrations are characteristic of genetic deficiencies of enzymes catalysing the first two steps of the pyrimidine degradative pathway (Van Gennip et al 1993), dihydropyrimidine dehy...
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Article
Abstracts of poster presentations
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Article
Dihydropyrimidinase deficiency presenting in infancy with severe developmental delay
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Chapter and Conference Paper
Dihydropyrimidinuria Presenting in Childhood with Severe Developmental Retardation
Dihydropyrimidinase (5,6-dihydropyrimidine amidohydrolase; EC 3.5.2.2), is the second enzyme involved in the breakdown of the pyrimidine bases uracil and thymine and catalyses the degradation of dihydrouracil ...
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Chapter
Raised IMP-Dehydrogenase Activity in the Erythrocytes of a Case of Purine Nucleoside Phosphorylase (PNP) Deficiency
The presenting features of PNP deficiency may be neurological, usually a mild non-progressive spastic diplegia, or related to immunodeficiency which predominantly affects T-lymphocytes. Patients usually die of...
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Chapter
An Improved Screening Method for Inherited Disorders of Purine and Pyrimidine Metabolism by HPLC
HPLC has been used extensively in the identification of genetic disorders of purine and pyrimidine metabolism. Some of the problems which may be encountered in assessing patients, for example on high caffeine ...
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Chapter
Purine Metabolites in Uraemia
Many investigators have described the large number of unknown solutes of low molecular weight, within the purine range, which accumulate in the plasma during progressive reduction in renal function (1). Their ...