Literature DB >> 13895863

Serum uric acid in mongolism.

R W FULLER, M W LUCE, E T MERTZ.   

Abstract

A highly significant increase (P < .01) in average uric acid level was found in the blood serum of mongoloids when levels were compared with those in normal control subjects or nonmongoloid, mentally retarded subjects. The possible relationship of these findings to other abnormalities known to exist in mongolism is discussed.

Entities:  

Keywords:  MENTAL DEFICIENCY/blood; MONGOLISM/blood; URIC ACID/blood

Mesh:

Substances:

Year:  1962        PMID: 13895863     DOI: 10.1126/science.137.3533.868

Source DB:  PubMed          Journal:  Science        ISSN: 0036-8075            Impact factor:   47.728


  13 in total

1.  QUANTITATIVE STUDIES ON A2, SICKLE CELL, AND FETAL HEMOGLOBINS IN NEGROES WITH MONGOLISM, WITH OBSERVATIONS ON TRANSLOCATION MONGOLISM IN NEGROES.

Authors:  E D WEINSTEIN; D L RUCKNAGEL; M W SHAW
Journal:  Am J Hum Genet       Date:  1965-09       Impact factor: 11.025

2.  Down syndrome with coexistent gout: report of six patients and possible reasons for the scarcity of descriptions of this association.

Authors:  N Kamatani; H Yamanaka; S Totokawa; S Kashiwazaki; M Higurashi
Journal:  Ann Rheum Dis       Date:  1996-09       Impact factor: 19.103

3.  Chromosomal localization of the gene for the human trifunctional enzyme, methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase.

Authors:  R Rozen; D Barton; J Du; D W Hum; R E MacKenzie; U Francke
Journal:  Am J Hum Genet       Date:  1989-06       Impact factor: 11.025

4.  Assignment of a third purine biosynthetic gene (glycinamide ribonucleotide transformylase) to human chromosome 21.

Authors:  R G Hards; S J Benkovic; M L Van Keuren; S L Graw; H A Drabkin; D Patterson
Journal:  Am J Hum Genet       Date:  1986-08       Impact factor: 11.025

5.  Assignment of human phosphoribosylglycinamide synthetase locus to region 21q221.

Authors:  B Chadefaux; D Allard; M O Rethoré; O Raoul; M Poissonnier; S Gilgenkrantz; C Cheruy; H Jérôme
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

6.  De novo purine nucleotide biosynthesis: cloning of human and avian cDNAs encoding the trifunctional glycinamide ribonucleotide synthetase-aminoimidazole ribonucleotide synthetase-glycinamide ribonucleotide transformylase by functional complementation in E. coli.

Authors:  J Aimi; H Qiu; J Williams; H Zalkin; J E Dixon
Journal:  Nucleic Acids Res       Date:  1990-11-25       Impact factor: 16.971

7.  Uric acid metabolism in two patients with coexistent Down's syndrome and gout.

Authors:  M L Ciompi; L M Bazzichi; D Bertolucci; M R Mazzoni; P Barbieri; S Mencacci; D Macchia; G Mariani
Journal:  Clin Rheumatol       Date:  1984-06       Impact factor: 2.980

8.  Synthesis and concentration of 5-phosphoribosyl-1-pyrophosphate in erythrocytes from patients with Down's syndrome.

Authors:  Y Nishida; I Akaoka; T Nishizawa; M Maruki; K Maruki
Journal:  Ann Rheum Dis       Date:  1977-06       Impact factor: 19.103

9.  Demonstration, by somatic cell genetics, of coordinate regulation of genes for two enzymes of purine synthesis assigned to human chromosome 21.

Authors:  D Patterson; S Graw; C Jones
Journal:  Proc Natl Acad Sci U S A       Date:  1981-01       Impact factor: 11.205

10.  Evaluation of uric acid levels, thyroid function, and anthropometric parameters in Japanese children with Down syndrome.

Authors:  Tomomi Niegawa; Kimitaka Takitani; Ryuzo Takaya; Manabu Ishiro; Yuichi Kuroyanagi; Keisuke Okasora; Yukako Minami; Takuya Matsuda; Hiroshi Tamai
Journal:  J Clin Biochem Nutr       Date:  2017-08-18       Impact factor: 3.114

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