Hypouricemic, Mentally Retarded Infant with a Defect of 5-Phosphoribosyl-1-pyrophophate Synthetase of Erythrocytes

A specific enzyme defect in gout associated with overproduction of uric acid.

1967 • 477 citations

Regulation of the synthesis of 5-phosphoribosyl-i-pyrophosphate in intact red blood cells and in cell-free preparations

1969 • 204 citations

Increased Cell Membrane Permeability in the Pathogenesis of Hereditary Spherocytosis *

1964 • 169 citations

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

1968 • 168 citations

Refractory Megaloblastic Anemia Associated with Excretion of Orotic Acid

1959 • 153 citations

Hypouricemia: with evidence for tubular elimination of uric acid.

1950 • 126 citations

The Control of Nucleotide Biosynthesis

1968 • 118 citations

Regulation and Mechanism of Phosphoribosylpyrophosphate Synthetase

1973 • 104 citations

Human erythrocyte phosphoribosylpyrophosphate synthetase mutationally altered in regulatory properties

1973 • 99 citations

Hypouricemia due to isolated renal tubular defect

1972 • 93 citations

The Clinical Significance of Hypouricemia

1973 • 89 citations

Studies on Human Erythrocyte Nucleotide Metabolism. II. Nonspherocytic Hemolytic Anemia, High Red Cell ATP, and Ribosephosphate Pyrophosphokinase (RPK, E.C. 2.7.6.1) Deficiency

1972 • 60 citations

Hypouricemia due to Renal Uricosuria

1973 • 46 citations

Nonspherocytic Haemolytic Anaemia with Increased Red Cell Adenine Nucleotides, Glutathione and Basophilic Stippling and Ribosephosphate Pyrophosphokinase (RPK) Deficiency: Studies on Two New Kindreds

1973 • 45 citations

A Gas Chromatographic Procedure for Detection of Pathological Organic Aciduria

1970 • 28 citations

Xanthinuria: An Additional Case with Demonstration of Xanthine Oxidase Deficiency

1971 • 25 citations

Urinary AICA (4-Amino-5-imidazolecarboxamide) Following an Oral Dose of AICA in Formiminotransferase Deficiency Syndrome

1966 • 15 citations

The Clinical Significance of Hypouricemia

1974 • 6 citations

Hypersegmentation of Megakaryocytes in a Folicacid Deficient Child

1971 • 3 citations