Associated Papers
Lesch-Nyhan syndrome: a case report.
Park HI et al.
Journal of the Korean Association of Oral and Maxillofacial Surgeons, 2023
Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variants.
Cho JH et al.
Metabolic Brain Disease, 2019
Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways.
Fu R et al.
Molecular Genetics and Metabolism, 2015
Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.
Fu R et al.
Brain : a Journal of Neurology, 2014
Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.
Yamada Y et al.
Nucleosides, Nucleotides & Nucleic Acids, 2014
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_4._Deleterious_Natural_Site_Variantsv3.xlsx › Supplementary_Table_4
Delineation of the motor disorder of Lesch-Nyhan disease.
Jinnah HA et al.
Brain : a Journal of Neurology, 2006
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