Literature DB >> 6136913

Hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular basis of the clinical syndromes.

J M Wilson, A B Young, W N Kelley.   

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Year:  1983        PMID: 6136913     DOI: 10.1056/NEJM198310133091507

Source DB:  PubMed          Journal:  N Engl J Med        ISSN: 0028-4793            Impact factor:   91.245


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  27 in total

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Review 3.  Multidisciplinary assessment and treatment of self-injurious behavior in autism spectrum disorder and intellectual disability: integration of psychological and biological theory and approach.

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4.  Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome.

Authors:  S Fujimori; B L Davidson; W N Kelley; T D Palella
Journal:  J Clin Invest       Date:  1989-01       Impact factor: 14.808

5.  Genetic diseases, immunology, viruses, and gene therapy.

Authors:  James M Wilson
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6.  Inherited disorders of purine metabolism--underlying molecular mechanisms.

Authors:  W Gutensohn
Journal:  Klin Wochenschr       Date:  1984-10-15

Review 7.  DNA restriction fragment length polymorphisms and heterozygosity in the human genome.

Authors:  D N Cooper; J Schmidtke
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

8.  Hypoxanthine-guanine phosphoribosyltransferase deficiency in three brothers with gout: characterization of a variant, HPRTEdinburgh, having altered isoelectric point, increased thermal lability and normal levels of messenger RNA.

Authors:  F F Snyder; J E Joyce; T Carter-Edwards; R Joshi; H L Rylance; R C Wallace; G Nuki
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

9.  Behavioral differences between neonatal and adult 6-hydroxydopamine-treated rats to dopamine agonists: relevance to neurological symptoms in clinical syndromes with reduced brain dopamine.

Authors:  G R Breese; A A Baumeister; T J McCown; S G Emerick; G D Frye; K Crotty; R A Mueller
Journal:  J Pharmacol Exp Ther       Date:  1984-11       Impact factor: 4.030

10.  Molecular cloning and nucleotide sequence for the complete coding region of human UMP synthase.

Authors:  D P Suttle; B Y Bugg; J K Winkler; J J Kanalas
Journal:  Proc Natl Acad Sci U S A       Date:  1988-03       Impact factor: 11.205

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