Concepedia

Simple non-radiochemical HPLC-linked method for screening for purine metabolism disorders using dried blood spot

G. Jacomelli, Vanna Micheli, Luana Peruzzi, L. Notarantonio, Barbara Cerboni, Silvia Sestini, G. Pompucci

Clinica Chimica Acta · 2002 · 25 citations · 13 references

DOI

Concepts

References

13

The Metabolic Basis of Inherited Disease.

Annals of Internal Medicine · 1988 · 7.8K citations

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A familial disorder of uric acid metabolism and central nervous system function

Michael Lesch, William L. Nyhan · The American Journal of Medicine · 1964 · 1.5K citations

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The Metabolic Basis of Inherited Disease

Matthew D. Crawford · Journal of Clinical Pathology · 1983 · 960 citations · Full text

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Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man

William N. Kelley, Robert I. Levy, Frederick M. Rosenbloom et al. · Journal of Clinical Investigation · 1968 · 166 citations · Full text

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SPECTROPHOTOMETRIC STUDIES

David L. Drabkin · Journal of Biological Chemistry · 1950 · 88 citations · Full text