• A new physiological medium uncovers biochemical and cellular alterations in Lesch-Nyhan disease fibroblasts
• A rare case of congenital insensitivity to pain with anhidrosis
• A Wearable Electrochemical Biosensor Utilizing Functionalized Ti₃C₂T_<em>x</em> MXene for the Real-Time Monitoring of Uric Acid Metabolite
• Adenylyl cyclase 2 expression and function in neurological diseases
• Allopurinol
• Allopurinol
• Amyloidogenic Propensity of Metabolites in the Uric Acid Pathway and Urea Cycle Critically Impacts the Etiology of Metabolic Disorders
• An Exploratory, Randomized, Double-Blind Clinical Trial of Dipraglurant for Blepharospasm
• Autosomal-dominant tubulointerstitial kidney disease with a novel UMOD mutation, overlapping with Sjogren's syndrome: a case report
• Clinical and genetic characteristics of 36 children with Joubert syndrome
• Clinical significance of hypouricemia in children and adolescents
• Comments regarding the paper "Lesch-Nyhan syndrome: a case report" published recently by Park et al. in <em>J Korean Assoc Oral Maxillofac Surg</em>
• Comments regarding the paper "Lesch-Nyhan syndrome: a case report" published recently by Park et al. in J Korean Assoc Oral Maxillofac Surg
• Comments regarding the paper "Oral Self-Mutilation in Lesch-Nyhan Patients: A Cross-Sectional Study" by Gaetano et al. published recently in the Journal of Clinical Medicine. 2022; 11: 5981. and concerning a topic related to pediatric dental pra
• CRISPR/Cas9-mediated generation of human embryonic stem cell sub-lines with HPRT1 gene knockout to model Lesch Nyhan disease
• Deep brain stimulation in Lesch-Nyhan syndrome: a systematic review
• Detailed genetic and clinical analysis of a novel <em>de novo</em> variant in <em>HPRT1</em>: Case report of a female patient from Saudi Arabia with Lesch-Nyhan syndrome
• Discovering functionally important sites in proteins
• Duration of botulinum toxin efficacy in cervical dystonia clinical trials: A scoping review
• Dysuricemia
• Electro-optical behaviour of CuFe₂ O₄ @rGO nanocomposite for nonenzymatic detection of uric acid via the electrochemical method
• Establishment and characterization of Lesch-Nyhan syndrome rabbit model
• Generation of an iPSC line (SDQLCHi030-A) derived from PBMCs of a patient with Lesch-Nyhan syndrome caused by HPRT1 mutation
• Genetic analysis of a Chinese pedigree with Lesch-Nyhan syndrome
• Genetics, X-Linked Inheritance
• Half-chromatid mutation as a possible cause of mosaic males and females in Hymenoptera and rare fertile male tortoiseshell cats
• HPRT1 Deficiency Induces Alteration of Mitochondrial Energy Metabolism in the Brain
• Lesch-Nyhan Syndrome
• Lesch-Nyhan syndrome: a case report
• Management of neurological symptoms in Lesch-Nyhan disease: A systematic review
• Metabolic and neurobehavioral disturbances induced by purine recycling deficiency in <em>Drosophila</em>
• Naringin corrects renal failure related to Lesch-Nyhan disease in a rat model via NOS-cAMP-PKA and BDNF/TrkB pathways
• Recurrent Fevers, Dysautonomia, and Dehydration in a Patient With Lesch-Nyhan Syndrome
• Red Blood Cells from Individuals with Lesch-Nyhan Syndrome: Multi-Omics Insights into a Novel S162N Mutation Causing Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
• Renal agenesis: A meta-analysis of its prevalence and clinical characteristics based on 15 641 184 patients
• Renal function, sex and age influence purines and pyrimidines in urine and could lead to diagnostic misinterpretation
• Single-Electrode Deep Brain Stimulation of Bilateral Posterolateral Globus Pallidus Internus in Patients With Medically Resistant Lesch-Nyhan Syndrome
• The Role of Video-EEG Monitoring in Lesch-Nyhan Syndrome
• Therapeutic gene correction for Lesch-Nyhan syndrome using CRISPR-mediated base and prime editing
• Two sides of the same coin: a complex presentation of autosomal dominant tubulointerstitial kidney diseases: a literature review and case reports
• Very Early Levodopa May Prevent Self-Injury in Lesch-Nyhan Disease