Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome - Wikidata - wikimedia - TriplyDB

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

http://www.wikidata.org/entity/Q21202956

about

Nephrolithiasis related to inborn metabolic diseases Towards in vivo amplification: Overcoming hurdles in the use of hematopoietic stem cells in transplantation and gene therapy Allopurinol: insights from studies of dose-response relationships.Diagnosis of dystonic syndromes--a new eight-question approach.Clinical utility gene card for: Lesch-Nyhan syndrome.Combined preconditioning and in vivo chemoselection with 6-thioguanine alone achieves highly efficient reconstitution of normal hematopoiesis with HPRT-deficient bone marrow Small Duplication of HPRT 1 Gene May Be Causative For Lesh-Nyhan Disease in Iranian Patients Lesch-Nyhan Syndrome in an Indian Child.Purinergic signaling in human pluripotent stem cells is regulated by the housekeeping gene encoding hypoxanthine guanine phosphoribosyltransferase Update on the phenotypic spectrum of Lesch-Nyhan disease and its attenuated variants.The renal phenotype of allopurinol-treated HPRT-deficient mouse.Common dysfunctional variants in ABCG2 are a major cause of early-onset gout.Minimal impact of age and housing temperature on the metabolic phenotype of Acc2-/- mice.Clinical utility gene card for: Lesch-Nyhan syndrome--update 2013.Genetic determinants of urolithiasis.Sinonasal involvement in sarcoidosis: a report of seven cases and review of literature.Parkinsonism and inborn errors of metabolism.HPRT deficiency in Spain: what have we learned in the past 30 years (1984-2013)?Transcriptomic approach to Lesch-Nyhan disease.Lesch-Nyhan Syndrome: Models, Theories, and Therapies.Revertant mosaicism in genodermatoses.Gout: An old disease in new perspective - A review.Oral Hemorrhage in a 3-year-old Boy Caused by Self-Mutilating Behavior.Late diagnosis of Lesch-Nyhan disease variant.Plasma Hypoxanthine-Guanine Phosphoribosyl Transferase Activity in Bottlenose Dolphins Contributes to Avoiding Accumulation of Non-recyclable Purines.Mild Lesch-Nyhan Disease in a Boy with a Null Mutation in HPRT1: An Exception to the Known Genotype-Phenotype Correlation.Adenosine, dopamine and serotonin receptors imbalance in lymphocytes of Lesch-Nyhan patients.Common defects of ABCG2, a high-capacity urate exporter, cause gout: a function-based genetic analysis in a Japanese population.Quantitative evaluation of the clinical effects of S-adenosylmethionine on mood and behavior in Lesch-Nyhan patients.Hypoxanthine-guanine phosphoribosylotransferase deficiency--the spectrum of Polish mutations.Pathophysiological Role of Purines and Pyrimidines in Neurodevelopment: Unveiling New Pharmacological Approaches to Congenital Brain Diseases.Urate nephropathy associated with impaired kinetic properties of hypoxanthine phosphoribosyl transferase in a 45-day-old infant.Remarkable clinical improvement with bilateral globus pallidus internus deep brain stimulation in a case of Lesch-Nyhan disease: five-year follow-up.Effect of hypoxanthine, antioxidants and allopurinol on cholinesterase activities in rats.Patent Highlights June-July 2017.High-dose mizoribine combined with calcineurin inhibitor (cyclosporine or tacrolimus), basiliximab and corticosteroids for renal transplantation: A Japanese multicenter study.Novel mutation in HPRT1 causing a splicing error with multiple variations.Prenatal diagnosis based on HPRT1 gene mutation in a Lesch-Nyhan family.Nephrolithiasis and Nephrocalcinosis in Childhood-Risk Factor-Related Current and Future Treatment Options.Probable Potential Role of Urate Transporter Genes in the Development of Metabolic Disorders.

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Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

http://www.wikidata.org/entity/Q21202956

description

2007 nî lūn-bûn

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2007 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2007 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年论文

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name

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

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Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

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Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

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Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

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Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

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Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

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Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

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Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

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Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

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Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

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Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

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Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

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Orphanet Journal of Rare Diseases

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Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

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Juan G Puig

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Rosa J Torres

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Creative Commons Attribution 2.0 Generic

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Purine metabolism in female heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency

Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase

Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo

Molecular analysis of a female Lesch-Nyhan patient

Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts

Dopamine function in Lesch-Nyhan disease

A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION

Abnormal purine and pyrimidine nucleotide content in primary astroglia cultures from hypoxanthine-guanine phosphoribosyltransferase-deficient transgenic mice

HPRT-APRT-deficient mice are not a model for lesch-nyhan syndrome

Dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease

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