Clinical Features of Patients With the "Partial" Deficiency of the X-Linked Uricaciduria Enzyme

Gene Action in the X-chromosome of the Mouse (Mus musculus L.)

1961 • 3,881 citations

Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine Synthesis

1967 • 1,210 citations

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

1967 • 477 citations

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Gout

1969 • 452 citations

Biochemical Bases of Accelerated Purine Biosynthesis de Novo in Human Fibroblasts Lacking Hypoxanthine-Guanine Phosphoribosyltransferase

1968 • 251 citations

Effect of allopurinol (4-Hydroxypyrazolo-(3,4-d)pyrimidine) on serum and urinary uric acid in primary and secondary gout

1964 • 228 citations

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

1968 • 168 citations

Urinary Xanthine Stones-a Rare Complication of Allopurinol Therapy

1969 • 165 citations

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency: Activity in Normal, Mutant, and Heterozygote-Cultured Human Skin Fibroblasts

1970 • 92 citations

Gout, Hyperlipidemia, and Diabetes Interrelationships

1966 • 90 citations

Calcium Pyrophosphate Dihydrate Crystal Deposition Disease

1969 • 88 citations

The Pathogenesis of Gout

1962 • 80 citations

Disorder of purine metabolism due to partial deficiency of hypoxanthine-guanine phosphoribosyltransferase

1970 • 80 citations

Benign symmetric lipomatosis (launois-bensaude adenolipomatosis) with gout and hyperlipoproteinemia

1970 • 73 citations

Metabolic Cooperation between Genetically Marked Human Fibroblasts in Tissue Culture

1968 • 62 citations

MEGALOBLASTIC ANÆMIA IN THE LESCH-NYHAN SYNDROME

1968 • 51 citations

Gout Associated with Calcification of Cartilage

1966 • 48 citations

Measurable linkage between ocular albinism and Xg.

1967 • 30 citations

Hereditary factors in gout; a review of recent literature.

1957 • 27 citations

X-linked uric aciduria with neurological disease and self-mutilation: Diagnostic test for the enzyme defect

1968 • 23 citations

Renal calculi preceding gouty arthritis in a child

1962 • 18 citations

GOUT IN INFANCY MANIFESTED BY RENAL FAILURE.

1964 • 14 citations

Hypoxanthine-guanine phosphoribosyltransferase deficiency and Xg blood group.

1970 • 13 citations

Nyhan-Lesch Syndrome and Juvenile Gout (Two Cases)

1968 • 4 citations