Disease: Hypoxanthine guanine phosphoribosyltransferase deficiency
- 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 Ti<sub>3</sub>C<sub>2</sub>T<sub><em>x</em></sub> 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
- Clinical and genetic characteristics of 36 children with Joubert syndrome
- 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
- Electro-optical behaviour of CuFe<sub>2</sub> O<sub>4</sub> @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 Drosophila
- 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 function, sex and age influence purines and pyrimidines in urine and could lead to diagnostic misinterpretation
- Research progress on renal calculus associate with inborn error of metabolism
- 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
- Very Early Levodopa May Prevent Self-Injury in Lesch-Nyhan Disease