Nonextraction solution for self-injurious behavior in children with Lesch-Nyhan syndrome: a retrospective case series with up to 14 years of follow-up.

When the kidneys speak for the brain: a nephrological presentation of a rare neurological disorder.

Umbilical Cord Blood Transplantation in Lesch-Nyhan Syndrome: A Case Report and Literature Review.

Modeling rare genetic disease with gene-edited induced pluripotent stem cells: relevance of the starting stock line.

Uncovering Proteomic and Biochemical Alterations in Plasma from Lesch-Nyhan Disease Patients.

Association of alcohol responsiveness and non-motor symptoms in isolated adult-onset dystonia.

Development of a Patient-Centered Outcome Tool for Blepharospasm: A Stepwise Modified Delphi Study.

Lesch-Nyhan syndrome a dental approach: case report.

Guanine is an inhibitor of c-jun terminal kinases.

[Clinical characteristics and treatment of two children with Lesch-Nyhan syndrome].

Modeling rare genetic disease with patient-derived induced pluripotent stem cells: reassessment of the minimum numbers of lines needed.

Gene Expression Analysis of HPRT-Deficient Cells Maintained with Physiological Levels of Folic Acid.

The diagnosis and treatment of disorders of nucleic acid/nucleotide metabolism associated with epilepsy.

[Lesch-Nyhan syndrome in dizygotic twins].

Case report: Whole exome sequencing identifies a novel variant in the HPRT1 gene in a male with developmental delay.

Purine Metabolism and Dystonia: Perspectives of a Long-Promised Relationship.

The Role of Purine Metabolism and Uric Acid in Postnatal Neurologic Development.

Kidney Stones in Children: Causes, Consequences, and Concerns.

Lesch-Nyhan Syndrome and Oral Self-injury: A Systematic Review of Case Reports.

Whole Exome Sequencing Facilitates Early Diagnosis of Lesch-Nyhan Syndrome: A Case Series.

Lesch-Nyhan Syndrome with Neurological Symptoms and Nephrocalcinosis.

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.

A narrative review of monogenic disorders causing nephrolithiasis and chronic kidney disease.

Unleashing the Power of Induced Pluripotent stem Cells in in vitro Modelling of Lesch-Nyhan Disease.

Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies.

Management of neurological symptoms in Lesch-Nyhan disease: A systematic review.

Adenylyl cyclase 2 expression and function in neurological diseases.

Recurrent Fevers, Dysautonomia, and Dehydration in a Patient With Lesch-Nyhan Syndrome.

Duration of botulinum toxin efficacy in cervical dystonia clinical trials: A scoping review.

Establishment and characterization of Lesch-Nyhan syndrome rabbit model.

Metabolic and neurobehavioral disturbances induced by purine recycling deficiency in Drosophila.

A rare case of congenital insensitivity to pain with anhidrosis.

Very Early Levodopa May Prevent Self-Injury in Lesch-Nyhan Disease.

A Wearable Electrochemical Biosensor Utilizing Functionalized Ti3C2Tx MXene for the Real-Time Monitoring of Uric Acid Metabolite.

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.

A new physiological medium uncovers biochemical and cellular alterations in Lesch-Nyhan disease fibroblasts.

Comments regarding the paper "Lesch-Nyhan syndrome: a case report" published recently by Park et al. in J Korean Assoc Oral Maxillofac Surg.

Generation of an iPSC line (SDQLCHi030-A) derived from PBMCs of a patient with Lesch-Nyhan syndrome caused by HPRT1 mutation.

Naringin corrects renal failure related to Lesch-Nyhan disease in a rat model via NOS-cAMP-PKA and BDNF/TrkB pathways.

Red Blood Cells from Individuals with Lesch-Nyhan Syndrome: Multi-Omics Insights into a Novel S162N Mutation Causing Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency.

Lesch-Nyhan syndrome: a case report.

The Role of Video-EEG Monitoring in Lesch-Nyhan Syndrome.

Clinical and genetic characteristics of 36 children with Joubert syndrome.

Renal function, sex and age influence purines and pyrimidines in urine and could lead to diagnostic misinterpretation.

Discovering functionally important sites in proteins.

CRISPR/Cas9-mediated generation of human embryonic stem cell sub-lines with HPRT1 gene knockout to model Lesch Nyhan disease.

Half-chromatid mutation as a possible cause of mosaic males and females in Hymenoptera and rare fertile male tortoiseshell cats.

[Genetic analysis of a Chinese pedigree with Lesch-Nyhan syndrome].

Single-Electrode Deep Brain Stimulation of Bilateral Posterolateral Globus Pallidus Internus in Patients With Medically Resistant Lesch-Nyhan Syndrome.

Electro-optical behaviour of CuFe2 O4 @rGO nanocomposite for nonenzymatic detection of uric acid via the electrochemical method.

Therapeutic gene correction for Lesch-Nyhan syndrome using CRISPR-mediated base and prime editing.

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 practice.

HPRT1 Deficiency Induces Alteration of Mitochondrial Energy Metabolism in the Brain.

Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: Case report of a female patient from Saudi Arabia with Lesch-Nyhan syndrome.

Deep brain stimulation in Lesch-Nyhan syndrome: a systematic review.

[Analysis of HPRT1 gene variant and prenatal diagnosis for a Chinese pedigree with Lesch-Nyhan syndrome but no specimen from affected probands].

Oral Self-Mutilation in Lesch-Nyhan Patients: A Cross-Sectional Study.

Abnormalities of neural stem cells in Lesch-Nyhan disease.

Monogenic urinary lithiasis in Tunisian children: 25 years' experience of a referral center.

Teeth Mutilation: Review and Two Case Reports.

Oral Self-Mutilation in Lesch-Nyhan Syndrome: A Case Report.

Ethical implications of early genetic diagnosis in an infant with Lesch-Nyhan syndrome.

HGprt deficiency disrupts dopaminergic circuit development in a genetic mouse model of Lesch-Nyhan disease.

Architecture of a multi-channel and easy-to-make microfluidic paper-based colorimetric device (μPCD) towards selective and sensitive recognition of uric acid by AuNPs: an innovative portable tool for the rapid and low-cost identification of clinically relevant biomolecules.

Liquid crystal-based sensitive and selective detection of uric acid and uricase in body fluids.

PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation.

Congenital anomalies-associated Riga-Fede disease as an early manifestation of Lesch-Nyhan syndrome: rare entities in the same pediatric patient-a case report.

Safety and Efficacy of Botulinum Toxin in the Treatment of Self-Biting Behavior in Lesch-Nyhan Disease.

Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch-Nyhan syndrome.

Microstructural white matter abnormalities in Lesch-Nyhan disease.

50 Years Ago in TheJournalofPediatrics: Diagnosis of Self-Mutilation and Hyperuricemia.

Cerebral Venous Sinus Thrombosis in a Child with Lesch-Nyhan Syndrome.

Selecting for and Checking Cells with HGPRT Deficiency for Hybridoma Production.

Lesch-Nyhan disease causes impaired energy metabolism and reduced developmental potential in midbrain dopaminergic cells.

[Living with Lesch-Nyhan disease].

Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention.

Lesch-Nyhan syndrome due to a splice-site mutation in a 14-month-old boy presenting as acute renal failure.

Induced pluripotent stem cells from subjects with Lesch-Nyhan disease.

Reduction of self-mutilating behavior and improved oromotor function in a patient with Lesch-Nyhan syndrome following botulinum toxin injection: A case report.

Deep brain stimulation in Lesch-Nyhan disease: outcomes from the patient's perspective.

Recurrent Xanthine Stones in a Young Patient with Lesch-Nyhan Syndrome.

Oxidopamine and oxidative stress: Recent advances in experimental physiology and pharmacology.

Clinical and molecular findings in a Turkish family with an ultra-rare condition, ELP2-related neurodevelopmental disorder.

CT, US and MRI of xanthine urinary stones: in-vitro and in-vivo analyses.

Atypical Cadherin FAT3 Is a Novel Mediator for Morphological Changes of Microglia.

Hypoxanthine phosphoribosyltransferase (HPRT)-deficiency is associated with impaired fertility in the female rat.

Delayed emergence from propofol anesthesia in a patient with Lesch-Nyhan syndrome: A case report.

An electrochemical biosensor based on multi-wall carbon nanotube-modified screen-printed electrode immobilized by uricase for the detection of salivary uric acid.

Deep Brain Stimulation of the Internal Pallidum in Lesch-Nyhan Syndrome: Clinical Outcomes and Connectivity Analysis.

A case of a 'rude' but not to be missed manifestation of epilepsy: ictal swearing.

Self-injurious behaviour in movement disorders: systematic review.

Physiological levels of folic acid reveal purine alterations in Lesch-Nyhan disease.

Lesch-Nyhan disease: I. Construction of expression vectors for hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme and amyloid precursor protein (APP).

Animal Model Contributions to Congenital Metabolic Disease.

HPRT-related hyperuricemia with a novel p.V35M mutation in HPRT1 presenting familial juvenile gout.

Rescuing compounds for Lesch-Nyhan disease identified using stem cell-based phenotypic screening.

Late diagnosis of Lesch-Nyhan disease complicated with end-stage renal disease and tophi burst: a case report.

Anaesthetic management of a child with Lesch Nyhan syndrome.

[Generation of cell strains containing point mutations in HPRT1 by CRISPR/Cas9].

HPRT and Purine Salvaging Are Critical for Hematopoietic Stem Cell Function.

Gout and the risk of advanced chronic kidney disease in the UK health system: a national cohort study.

Reduced Graphene Oxide-based Covalent Hybrid Film Electrode Self-assembled with Gold Nanoparticles for the Enzyme-Free Amperometric Sensing of Serum Uric Acid.

Tongue Protrusion Dystonia in Pantothenate Kinase-Associated Neurodegeneration.

Animal Models of Self-Injurious Behavior: An Update.

Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency.

Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variants.

Dystonia in Handcuffs: A Picture Typical of Lesch-Nyhan Syndrome.

Microglial histamine H4R in the pathophysiology of Parkinson's disease-a new actor on the stage?

Genetic mimics of cerebral palsy.

Understanding the structure-function relationship of HPRT1 missense mutations in association with Lesch-Nyhan disease and HPRT1-related gout by in silico mutational analysis.

Analysis of synonymous codon usage patterns of HPRT1 gene across twelve mammalian species.

Inhibiting PNP for the therapy of hyperuricemia in Lesch-Nyhan disease: Preliminary in vitro studies with analogues of immucillin-G.

Spinal Tophi Causing Cord Compression and Mimicking Epidural Abscess in a Young Man With Lesch-Nyhan Variant.

Recurrent kidney stones in a child with Lesch-Nyhan syndrome: Answers.

Recurrent kidney stones in a child with Lesch-Nyhan syndrome: Questions.

Compositional complexity of rods and rings.

Xanthine calculi in a patient with Lesch-Nyhan syndrome and factor V Leiden treated with allopurinol: case report.

Congenital and acquired diseases related to stone formation.

GLUT9 influences uric acid concentration in patients with Lesch-Nyhan disease.

Macrocytic anemia in Lesch-Nyhan disease and its variants.

A review of HPRT and its emerging role in cancer.

Oral self-mutilation in Lesch-Nyhan Syndrome. Case Report.

Inborn Errors of Metabolism with Cognitive Impairment: Metabolism Defects of Phenylalanine, Homocysteine and Methionine, Purine and Pyrimidine, and Creatine.

Lesch-Nyhan Syndrome in a Chinese Family with Mutation in the Hypoxanthine-Guanine Phosphoribosyltransferase Gene.

Leveraging Rational Protein Engineering to Improve mRNA Therapeutics.

Altered gastrointestinal motility in an animal model of Lesch-Nyhan disease.

Lesch-Nyhan syndrome and its variants: examining the behavioral and neurocognitive phenotype.

Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease.

Skewed X inactivation in Lesch-Nyhan disease carrier females.

Uric acid, an important screening tool to detect inborn errors of metabolism: a case series.

A Case of Attempted Bilateral Self-Enucleation in a Patient with Bipolar Disorder.

CRISPR/Cas9-Mediated Scanning for Regulatory Elements Required for HPRT1 Expression via Thousands of Large, Programmed Genomic Deletions.

Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene.

A Trivalent Enzymatic System for Uricolytic Therapy of HPRT Deficiency and Lesch-Nyhan Disease.

Lesch-Nyhan syndrome: The saga of metabolic abnormalities and self-injurious behavior.

The renal phenotype of allopurinol-treated HPRT-deficient mouse.

Quantification of various APP-mRNA isoforms and epistasis in Lesch-Nyhan disease.

Oral Hemorrhage in a 3-year-old Boy Caused by Self-Mutilating Behavior.

Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.

[Treatment of self-injurious behaviors in Lesch-Nyhan syndrome with S-adenosylmethionine].

Lesch-Nyhan Syndrome: Models, Theories, and Therapies.

A review of the implication of hypoxanthine excess in the physiopathology of Lesch-Nyhan disease.

Development of new forms of self-injurious behavior following total dental extraction in Lesch-Nyhan disease.

Self-injurious Behavior in a Young Child with Lesch-Nyhan Syndrome.

Novel mutation in HPRT1 causing a splicing error with multiple variations.

HPRTYale proposed as a pathogenic variant for Lesch-Nyhan syndrome: a case report.

Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome.

Lesch-Nyhan Syndrome: Disorder of Self-mutilating Behavior.

Towards rational drug treatment of Lesch-Nyhan disease.

Neurotransmitter and their metabolite concentrations in different areas of the HPRT knockout mouse brain.

Acute renal failure unmasking Lesch-Nyhan disease in a patient with tuberous sclerosis complex.

Reduced levels of dopamine and altered metabolism in brains of HPRT knock-out rats: a new rodent model of Lesch-Nyhan Disease.

A double-blind, placebo-controlled, crossover trial of the selective dopamine D1 receptor antagonist ecopipam in patients with Lesch-Nyhan disease.

Overcoming the oral aspects of -self-mutilation: description of a method.

Nephrocalcinosis and Renal Failure in Lesch-Nyhan Syndrome: Report of Two Familial Cases and Review of the Literature.

The Use of Perinatal 6-Hydroxydopamine to Produce a Rodent Model of Lesch-Nyhan Disease.

A clinical trial of safety and tolerability for the selective dopamine D1 receptor antagonist ecopipam in patients with Lesch-Nyhan disease.

The eye and the skin in nonendocrine metabolic disorders.

[Self injury in adolescence].

An unusual case of renal failure: Answers.

An unusual case of renal failure: Questions.

Altered histamine neurotransmission in HPRT-deficient mice.

Epigenetic Regulation in Amyloid Precursor Protein with Genomic Rearrangements and the Lesch-Nyhan Syndrome.

MicroRNAs: tools of mechanistic insights and biological therapeutics discovery for the rare neurogenetic syndrome Lesch-Nyhan disease (LND).

Determination of Activity of the Enzymes Hypoxanthine Phosphoribosyl Transferase (HPRT) and Adenine Phosphoribosyl Transferase (APRT) in Blood Spots on Filter Paper.

Lesch-Nyhan Syndrome in an Indian Child.

Do clinical features of Lesch-Nyhan disease correlate more closely with hypoxanthine or guanine recycling?

Efficient Gene Editing in Pluripotent Stem Cells by Bacterial Injection of Transcription Activator-Like Effector Nuclease Proteins.

Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene.

Hypoxanthine deregulates genes involved in early neuronal development. Implications in Lesch-Nyhan disease pathogenesis.

Nucleotide salvage deficiencies, DNA damage and neurodegeneration.

Angelman syndrome: The blurred lines of interpretation in cognitive defects.

Consequences of impaired purine recycling on the proteome in a cellular model of Lesch-Nyhan disease.

Small Duplication of HPRT 1 Gene May Be Causative For Lesh-Nyhan Disease in Iranian Patients.

The human β-amyloid precursor protein: biomolecular and epigenetic aspects.

Alzheimer's disease shares gene expression aberrations with purinergic dysregulation of HPRT deficiency (Lesch-Nyhan disease).

New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.

Remarkable clinical improvement with bilateral globus pallidus internus deep brain stimulation in a case of Lesch-Nyhan disease: five-year follow-up.