Attenuated variants of Lesch-Nyhan disease - Wikidata - awgldk - TriplyDB

Attenuated variants of Lesch-Nyhan disease

Attenuated variants of Lesch-Nyhan disease

http://www.wikidata.org/entity/Q33742416

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Differential Co-Expression between α-Synuclein and IFN-γ Signaling Genes across Development and in Parkinson’s Disease Genotypic and phenotypic spectrum in attenuated variants of Lesch-Nyhan disease Nucleotide salvage deficiencies, DNA damage and neurodegeneration Metabolic disorders of purine metabolism affecting the nervous system.Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants.Clinical utility gene card for: Lesch-Nyhan syndrome.Needles in haystacks: the challenges of rare diseases Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways Brain white matter volume abnormalities in Lesch-Nyhan disease and its variants Uric acid stones in the urinary bladder of aryl hydrocarbon receptor (AhR) knockout mice.Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene.Update on the phenotypic spectrum of Lesch-Nyhan disease and its attenuated variants.The genetics of dystonias.Clinical utility gene card for: Lesch-Nyhan syndrome--update 2013.Regional brain volume abnormalities in Lesch-Nyhan disease and its variants: a cross-sectional study.The Effects of Lowering Uric Acid Levels Using Allopurinol on Components of Metabolic Syndrome.The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch-Nyhan Disease Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.Xanthine oxido-reductase, free radicals and cardiovascular disease. A critical review.Parkinsonism and inborn errors of metabolism.HPRT deficiency in Spain: what have we learned in the past 30 years (1984-2013)?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.Multiple sclerosis or neuromyelitis optica? Re-evaluating an 18th-century illness using 21st-century software.New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.Late diagnosis of Lesch-Nyhan disease variant.Mild Lesch-Nyhan Disease in a Boy with a Null Mutation in HPRT1: An Exception to the Known Genotype-Phenotype Correlation.Different phenotypes among Lesch-Nyhan variants: clinical reality or limitation of ascertainment?Partial HPRT deficiency phenotype and incomplete splicing mutation.Identification of novel mutations in the human HPRT gene.Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferase.What if DSM 5 attenuated psychosis syndrome did not refer to risk, but a forme fruste?.Quantitative evaluation of the clinical effects of S-adenosylmethionine on mood and behavior in Lesch-Nyhan patients.Reply: Attenuated variants of Lesch–Nyhan disease: the case of King James VI/I.The Rehabilitation Engineering and Assistive Technology Society of North America (RESNA) Position on the Application of Wheelchairs, Seating Systems, and Secondary Supports for Positioning Versus Restraint.Molecular characterization and structure analysis of HPRT in a Chinese patient with Lesch-Nyhan disease.Lesch-Nyhan variant syndrome: real-time rt-PCR for mRNA quantification in variable presentation in three affected family members.Novel mutations in the human HPRT gene.Cognition in childhood dystonia: a systematic review.Skewed X inactivation in Lesch-Nyhan disease carrier females.Fuzzy optimization for detecting enzyme targets of human uric acid metabolism.

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Attenuated variants of Lesch-Nyhan disease

http://www.wikidata.org/entity/Q33742416

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2010 nî lūn-bûn

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2010 թուականի Մարտին հրատարակուած գիտական յօդուած

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2010 թվականի մարտին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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Attenuated variants of Lesch-Nyhan disease

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Attenuated variants of Lesch-Nyhan disease

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Attenuated variants of Lesch-Nyhan disease

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Alfonso Verdu

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Antonello Cossu

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Chien-Hui Wu

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Chung-Jen Chen

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David J Schretlen

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H A Jinnah

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Irene Ceballos-Picot

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James C Harris

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Jasper E Visser

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Juan G Puig

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Creative Commons Attribution-NonCommercial

P2860

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

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

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

Kelley-Seegmiller syndrome due to a unique variant of hypoxanthine-guanine phosphoribosyltransferase: reduced affinity for 5-phosphoribosyl-1-pyrophosphate manifested only at low, physiological substrate concentrations

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

Functional analysis of brain dopamine systems in a genetic mouse model of Lesch-Nyhan syndrome

Influence of age and strain on striatal dopamine loss in a genetic mouse model of Lesch-Nyhan disease

Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency.

Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement.

The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases.

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10.1093/BRAIN/AWQ013

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Pt 3

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133

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Raquel Dodelson de Kremer

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