Lesch-Nyhan Syndrome: Preventive Control by Prenatal Diagnosis
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Abstract
References (10)
PROTEIN MEASUREMENT WITH THE FOLIN PHENOL REAGENT
1951 • 319,299 citations
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
Role of Amniocentesis in the Intrauterine Detection of Genetic Disorders
1970 • 222 citations
Urine uric acid to creatinine ratio—a screening test for inberited disorders of purine metabolism
1968 • 168 citations
Substrate Stabilization: Genetically Controlled Reciprocal Relationship of Two Human Enzymes
1970 • 77 citations
Lesch-Nyhan Mutation: Prenatal Detection with Amniotic Fluid Cells
1969 • 70 citations
X-linked uric aciduria with neurological disease and self-mutilation: Diagnostic test for the enzyme defect
1968 • 23 citations
[17] Preparation and processing of small samples of human material
1971 • 15 citations