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lesch nyhan syndrome
Summary
General Info
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Most Correlated Studies
OMIM - Congenital disorder
Mouse Phenotypes - Deficiency of transferase
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Literature
Most Relevant Literature
PRTFDC1 is a genetic modifier of HPRT-deficiency in the mouse.
Hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with a Madrid II mutation.
Abnormalities of neural stem cells in Lesch-Nyhan disease.
Microstructural white matter abnormalities in Lesch-Nyhan disease.
Intrathecal baclofen therapy for Lesch-Nyhan disease: illustrative case.
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Clinical Trials
Most Relevant Clinical Trials
Physiotherapy Assessment Based on the ICF Model in The Lesch-Nyhan Syndrome: Case Report
Trial of Kuvan in Lesch-Nyhan Disease
Ecopipam Treatment of Self-Injurious Behavior in Subjects With Lesch-Nyhan Disease
Safety and Tolerability of the D1 Dopamine Receptor Antagonist Ecopipam in Patients With Lesch-Nyhan…
Phase II Pilot Study of Aminoimidazole Carboxamide Riboside (AICAR), a Precursor of Purine Synthesis…
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