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Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
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High uric acid promotes dysfunction in pancreatic β cells by blocking IRS2/AKT signalling.
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33127482 |
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Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency.
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Very mild isolated intellectual disability caused by adenylosuccinate lyase deficiency: a new phenotype.
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Tophaceous gout in thoracic spine mimicking meningioma: A case report and literature review.
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Lesch-Nyhan disease: I. Construction of expression vectors for hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme and amyloid precursor protein (APP).
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Gout.
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Prevalence of Hyperuricemia and its Correlation with Serum Lipids and Blood Glucose in Physical Examination Population in 2015 - 2018: a Retrospective Study.
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Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency.
61
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Long-term renal outcomes of APRT deficiency presenting in childhood.
61
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[Efficiency estimation of diet therapy with protein component modification in patients with obesity and purine metabolism disorder].
61
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Xanthoma Combined With Gout Infiltration of the Achilles Tendon: A Case Report.
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50 Years Ago in The Journal Of Pediatrics: A New Disorder of Purine Metabolism with Behavioral Manifestations.
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Pegloticase Induced Hemolytic Anemia in a Patient With G6PD Deficiency.
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Inborn Errors of Metabolism with Cognitive Impairment: Metabolism Defects of Phenylalanine, Homocysteine and Methionine, Purine and Pyrimidine, and Creatine.
61
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Hereditary xanthinuria is not so rare disorder of purine metabolism.
61
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Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease.
61
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Multiple Asymptomatic Juxta-Articular Nodules Mimicking Tuberous-Xanthoma-A Unusual Presentation of Tophaceous Gout.
61
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Tandon S...Singh J
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Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene.
61
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Nguyen KV...Nyhan WL
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28524722 |
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| 22 |
Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.
61
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Nguyen KV...Nyhan WL
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28045594 |
2017 |
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Lesch-Nyhan syndrome: The saga of metabolic abnormalities and self-injurious behavior.
61
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The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch-Nyhan Disease.
61
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[The detection of proteomic markers and immunologic profile and their relationship with metabolic parameters in patients with gout.]
61
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Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch-Nyhan Disease: A Case Report and Review of the Literature.
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Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome.
61
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2016 |
| 28 |
Towards rational drug treatment of Lesch-Nyhan disease.
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| 29 |
Kidney Disease in Adenine Phosphoribosyltransferase Deficiency.
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| 30 |
Treatment and prevention of gout.
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Adenosine deaminase deficient severe combined immunodeficiency presenting as atypical haemolytic uraemic syndrome.
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Hyperuricemia and gout due to deficiency of hypoxanthine-guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis.
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Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene.
61
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| 34 |
Brain white matter volume abnormalities in Lesch-Nyhan disease and its variants.
61
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Epigenetic regulation in amyloid precursor protein and the Lesch-Nyhan syndrome.
61
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Nguyen KV
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Uric acid induces oxidative stress and growth inhibition by activating adenosine monophosphate-activated protein kinase and extracellular signal-regulated kinase signal pathways in pancreatic β cells.
61
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The rheumatology of gout.
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Safety of urate-lowering therapies: managing the risks to gain the benefits.
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Keenan RT
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23137576 |
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Non-infectious lung disease in patients with adenosine deaminase deficient severe combined immunodeficiency.
61
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Booth C...Gaspar HB
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Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature.
61
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Jurecka A...Tylki-Szymanska A
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| 41 |
A case of hereditary xanthinuria type 1 accompanied by bilateral renal calculi.
61
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Fujiwara Y...Ichida K
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| 42 |
An HPLC-based assay of adenylosuccinate lyase in erythrocytes.
61
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Bierau J...Bakker JA
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22060555 |
2011 |
| 43 |
Urine alkalinization may be enough for the treatment of bilateral renal pelvis stones associated with Lesch-Nyhan syndrome.
61
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Oh MM...Moon du G
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21331772 |
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| 44 |
Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient.
61
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Jurecka A...Tylki-Szymanska A
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20077140 |
2010 |
| 45 |
Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases.
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Lundy CT...Champion MP
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| 46 |
How I treat ADA deficiency.
61
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Gaspar HB...Notarangelo LD
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19638621 |
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| 47 |
Gene therapy for immunodeficiency due to adenosine deaminase deficiency.
61
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Aiuti A...Roncarolo MG
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19179314 |
2009 |
| 48 |
Pegademase bovine (PEG-ADA) for the treatment of infants and children with severe combined immunodeficiency (SCID).
61
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Booth C...Gaspar HB
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[Peculiarities of uric acid balance disorders in patients with type 2 diabetes and metabolic syndrome].
61
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Korpachev VV...Mosendz IO
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2009 |
| 50 |
Levodopa therapy in a Lesch-Nyhan disease patient: pathological, biochemical, neuroimaging, and therapeutic remarks.
61
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Inborn errors of metabolism 
