Literature DB >> 14142409

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

M LESCH, W L NYHAN.   

Abstract

Entities:  

Keywords:  ATHETOSIS; BLOOD CHEMICAL ANALYSIS; CENTRAL NERVOUS SYSTEM DISEASES; CEREBRAL PALSY; CEREBROSPINAL FLUID; CHILD; CHOREA; CHROMIUM ISOTOPES; CLINICAL RESEARCH; GENETICS, HUMAN; GOUT; INFANT; INFANT, NEWBORN; MENTAL RETARDATION; MONGOLISM; URIC ACID; URINE

Mesh：

Substances：

Year:  1964        PMID： 14142409     DOI： 10.1016/0002-9343(64)90104-4

Source DB:  PubMed          Journal:  Am J Med        ISSN： 0002-9343            Impact factor:   4.965


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  258 in total

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3.  Relation between creatinine and uric acid excretion.

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4.  Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE).

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5.  Clinical utility gene card for: Lesch-Nyhan syndrome.

Authors:  Rosa J Torres; Juan G Puig; Irène Ceballos-Picot
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6.  Uric Acid and behaviour.

Authors: 
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8.  Cypin: A novel target for traumatic brain injury.

Authors:  Przemyslaw Swiatkowski; Emily Sewell; Eric S Sweet; Samantha Dickson; Rachel A Swanson; Sara A McEwan; Nicholas Cuccolo; Mark E McDonnell; Mihir V Patel; Nevin Varghese; Barclay Morrison; Allen B Reitz; David F Meaney; Bonnie L Firestein
Journal:  Neurobiol Dis       Date:  2018-07-19       Impact factor: 5.996

9.  Activation of variants of hypoxanthine-guanine phosphoribosyl transferase by the normal enzyme.

Authors:  B Bakay; W L Nyhan
Journal:  Proc Natl Acad Sci U S A       Date:  1972-09       Impact factor: 11.205

10.  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.

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Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982
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