Complete deficiency of adenine phosphoribosyltransferase: a third case presenting as renal stones in a young child.

XANTHINURIA

1954 • 173 citations

Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man

1968 • 164 citations

Complete Deficiency of Adenine Phosphoribosyltransferase

1977 • 144 citations

THE DIRECT OXIDATION OF ADENINE IN VIVO

1950 • 101 citations

The identification of 2,8-dihydroxyadenine, a new component of urinary stones

1976 • 93 citations

Urinary excretion of purines, pyrimidines and pyrazolopyrimidines in patients treated with allopurinol or oxipurinol

1969 • 68 citations

Les activités purine-phosphoribosyl transférasiques des globules rouges humains technique de dosage

1968 • 48 citations

Adenine Phosphoribosyltransferase Deficiency: Its Inheritance and Occurrence in a Female with Gout and Renal Disease

1975 • 45 citations

Child's Urinary Lithiasis Revealing a Complete Deficit in Adenine Phosphoribosyl Transferase

1976 • 42 citations

The Thermogravimetric Analysis of Renal Stones (in clinical practice)

1976 • 42 citations

[A new metabolic disease: the complete deficit of adenine phosphoribosyltransferase and lithiasis of 2,8-dihydroxyadenine].

1974 • 40 citations

Adenine and Adenosine Metabolism in Intact Erythrocytes Deficient in Adenosine Monophosphate-Pyrophosphate Phosphoribosyltransferase: A Study of Two Families

1978 • 23 citations

Purine Excretion in Complete Adenine Phosphoribosyltransferase Deficiency: Effect of Diet and Allopurinol Therapy

1977 • 23 citations

A quantitative approach to the analysis of renal calculi.

1970 • 20 citations

Gout with Adenine Phosphoribosyl Transferase Deficiency

1974 • 18 citations

Adenine Phosphoribosyltransferase Deficiency in a Female with Gout

1974 • 17 citations

Complete Deficiency of Adenine Phosphoribosyltransferase: Report of a Family

1977 • 14 citations

Functional assay of cytotoxic lymphocytes involved in antibody-mediated cytotoxicity in normal and rheumatoid subjects.

1977 • 13 citations

Purine Enzyme Abnormalities: A Four Year Experience

1977 • 10 citations

Incidence of APRT Deficiency

1977 • 8 citations

Recent data on uric acid lithiasis.

1974 • 6 citations

The Lesch-Nyhan syndrome.

1974 • 6 citations