Keyphrases
Female Patients
100%
Molecular Characterization
100%
Biochemical Characterization
100%
Hypoxanthine-guanine Phosphoribosyltransferase
100%
Genetic Characterization
100%
Lesch-Nyhan Disease
100%
X Chromosome
71%
Biochemical Alterations
14%
Long Arm
14%
X-linked Disorder
14%
Developmental Delay
14%
Clinical Manifestations
14%
Choreoathetosis
14%
Fibroblasts
14%
Structural Genes
14%
Spasticity
14%
Neurological Manifestations
14%
Gene Locus
14%
Disease Phenotype
14%
Female Heterozygotes
14%
Cultured Fibroblasts
14%
Purine
14%
46,XX
14%
Acute Renal Failure
14%
Self-mutilation
14%
Purine Salvage
14%
Salvage Enzymes
14%
Metabolism Characteristics
14%
Lyonization
14%
Purine nucleotide Metabolism
14%
Autosome Translocation
14%
Biochemistry, Genetics and Molecular Biology
Genetics
100%
Phosphoribosyltransferase
100%
Allele
71%
X Chromosome
71%
Transcription
57%
Fibroblast
28%
Autosome
14%
Gene Locus
14%
Structural Gene
14%
X-Inactivation
14%
Nucleotide Metabolism
14%
Salvage Enzyme
14%
Neuroscience
Hypoxanthine Phosphoribosyltransferase
100%
Lesch Nyhan Syndrome
100%
X Chromosome
71%
Epileptic Absence
28%
Fibroblast
28%
Purine
28%
Metabolic Pathway
14%
Autosome
14%
Gene Locus
14%
Structural Gene
14%
Automutilation
14%
Purine Nucleotide
14%
Choreoathetosis
14%
X Chromosome Inactivation
14%
X-Linked Recessive Disorders
14%