Literature DB >> 710055

Adenine and adenosine metabolism in intact erythrocytes deficient in adenosine monophosphate-pyrophosphate phosphoribosyltransferase: a study of two families.

B M Dean, D Perrett, H A Simmonds, A Sahota, K J Van Acker.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1978        PMID： 710055     DOI： 10.1042/cs0550407

Source DB:  PubMed          Journal:  Clin Sci Mol Med        ISSN： 0301-0538


× No keyword cloud information.
  7 in total

1.  Immunological investigation in adenine phosphoribosyl transferase (APRT) deficiency.

Authors:  W J Stevens; M E Peetermans; K J Van Acker
Journal:  Clin Exp Immunol       Date:  1979-06       Impact factor: 4.330

2.  2,8-Dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus.

Authors:  A Sahota; J Chen; M A Behzadian; R Ravindra; H Takeuchi; P J Stambrook; J A Tischfield
Journal:  Am J Hum Genet       Date:  1991-05       Impact factor: 11.025

3.  Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency.

Authors:  Guillaume Bollée; Cécile Dollinger; Lucile Boutaud; Delphine Guillemot; Albert Bensman; Jérôme Harambat; Patrice Deteix; Michel Daudon; Bertrand Knebelmann; Irène Ceballos-Picot
Journal:  J Am Soc Nephrol       Date:  2010-02-11       Impact factor: 10.121

4.  Rapid method for the diagnosis of partial adenine phosphoribosyltransferase deficiencies causing 2,8-dihydroxyadenine urolithiasis.

Authors:  F Takeuchi; K Matsuta; T Miyamoto; S Enomoto; S Fujimori; I Akaoka; N Kamatani; K Nishioka
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

5.  Complete deficiency of adenine phosphoribosyltransferase: a third case presenting as renal stones in a young child.

Authors:  T M Barratt; H A Simmonds; J S Cameron; C F Potter; G A Rose; D G Arkell; D I Williams
Journal:  Arch Dis Child       Date:  1979-01       Impact factor: 3.791

6.  Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies.

Authors:  S Fujimori; I Akaoka; K Sakamoto; H Yamanaka; K Nishioka; N Kamatani
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

7.  HPRT-deficiency associated with normal PRPP concentration and APRT activity.

Authors:  R B Gordon; D T Keough; B T Emmerson
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.