Concepedia

Effect of d-ribose on purine synthesis and neurological symptoms in a patient with adenylosuccinase deficiency

C. Salerno, P D’Eufemia, Roberto Finocchiaro, Mauro Celli, Alberto Spalice, P. Iannetti, C Crifò, O Giardini

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 1999 · 38 citations · 26 references

DOI

Concepts

References

26

A PHOTOMETRIC METHOD FOR THE DETERMINATION OF FREE PENTOSES IN ANIMAL TISSUES

Joseph H. Roe, Eugene W. Rice · Journal of Biological Chemistry · 1948 · 605 citations · Full text

, , +8

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

, , +14

Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis

Jaak Jaeken, S. K. Wadman, M. Durán et al. · European Journal of Pediatrics · 1988 · 125 citations

, , +14

A mutation in adenylosuccinate lyase associated with mental retardation and autistic features

Randy L. Stone, Junko Aimi, Bruce A. Barshop et al. · Nature Genetics · 1992 · 125 citations

, , +13

The purine nucleotide cycle. Control of phosphofructokinase and glycolytic oscillations in muscle extracts

Keith Tornheim, JM Lowenstein · Journal of Biological Chemistry · 1975 · 109 citations · Full text

, , +17