Molecular aspects of the lesch-nyhan syndrome

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

1961 • 3,881 citations

A familial disorder of uric acid metabolism and central nervous system function

1964 • 1,448 citations

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

1967 • 1,210 citations

The Chemical Basis of Heredity

1957 • 1,044 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

The Regulation of Activity of Phosphoribosylpyrophosphate Amidotransferase by Purine Ribonucleotides: A Potential Feedback Control of Purine Biosynthesis

1959 • 250 citations

The Enzymology of Feedback Inhibition of Glutamine Phosphoribosylpyrophosphate Amidotransferase by Purine Ribonucleotides

1964 • 207 citations

Inherited disorder of purine metabolism. Correlation between central nervous system dysfunction and biochemical defects

1967 • 172 citations

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

1968 • 168 citations

THE INOSINIC ACID PYROPHOSPHORYLASE ACTIVITY OF MOUSE FIBROBLASTS PARTIALLY RESISTANT TO 8-AZAGUANINE

1963 • 161 citations

Regulation of Purine Ribonucleotide Synthesis by End Product Inhibition

1965 • 125 citations

Lesch-Nyhan Syndrome: Altered Kinetic Properties of Mutant Enzyme

1971 • 118 citations

LYON HYPOTHESIS AND X-LINKED DISEASE

1967 • 114 citations

An Enzymatic Basis for Variation in Response to Allopurinol

1968 • 96 citations

Purification of IMP:Pyrophosphate Phosphoribosyltransferases, Catalytically Incompetent Enzymes in Lesch-Nyhan Disease

1971 • 93 citations

BIOCHEMICAL DIAGNOSIS OF AN X-LINKED DISEASE IN UTERO

1968 • 87 citations

The Effects of Azathioprine (Imuran) on Purine Synthesis in Clinical Disorders of Purine Metabolism*

1967 • 85 citations

Substrate Stabilization: Genetically Controlled Reciprocal Relationship of Two Human Enzymes

1970 • 77 citations

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency: Chemical Agents Selective for Mutant or Normal Cultured Fibroblasts in Mixed and Heterozygote Cultures

1971 • 72 citations

Lesch-Nyhan Syndrome: Preventive Control by Prenatal Diagnosis

1970 • 70 citations

X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: Detection of heterozygotes by selective medium

1970 • 64 citations

Metabolic Cooperation between Genetically Marked Human Fibroblasts in Tissue Culture

1968 • 62 citations

Xanthine phosphoribosyltransferase in man: Relationship to hypoxanthine-guanine phosphoribosyltransferase

1967 • 62 citations

Detection of females heterozygous for the Lesch-Nyhan mutation by 8-azaguanine-resistant growth of cultured fibroblasts.

1971 • 47 citations

Excretion of Hypoxanthine and Xanthine in a Genetic Disease of Purine Metabolism

1967 • 44 citations

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

1968 • 23 citations

Preventive Control of the Lesch-Nyhan Syndrome

1972 • 18 citations