Concepedia

Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis

Jaak Jaeken, S. K. Wadman, M. Durán, F. J. van Sprang, F. A. Beemer, R. A. Holl, P. M. Theunissen, Françoise Van den Bergh, Marie Vincent, Greet Van den Berghe

European Journal of Pediatrics · 1988 · 125 citations · 13 references

DOI

Concepts

References

13

A NEW COUPLING COMPONENT FOR SULFANILAMIDE DETERMINATION

A. C. Bratton, E. K. Marshall · Journal of Biological Chemistry · 1939 · 2.9K citations · Full text

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The Metabolic Basis of Inherited Disease.

Annals of Internal Medicine · 1983 · 2.7K citations

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Neurology of hereditary metabolic diseases of children

Electroencephalography and Clinical Neurophysiology · 1997 · 245 citations

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AN INFANTILE AUTISTIC SYNDROME CHARACTERISED BY THE PRESENCE OF SUCCINYLPURINES IN BODY FLUIDS

JaakJaeken Georges, VanDen Berghe · The Lancet · 1984 · 200 citations

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Urine uric acid to creatinine ratio—a screening test for inberited disorders of purine metabolism

Joel M. Kaufman, Martin L. Greene, J. Edwin Seegmiller · The Journal of Pediatrics · 1968 · 167 citations

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