Literature DB >> 4369998

Erythrocyte phosphoribosylpyrophosphate concentrations in heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency.

R B Gordon, L Thompson, B T Emmerson.   

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Year:  1974        PMID: 4369998     DOI: 10.1016/0026-0495(74)90041-9

Source DB:  PubMed          Journal:  Metabolism        ISSN: 0026-0495            Impact factor:   8.694


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  7 in total

1.  Immunological and purine enzyme studies on hyperuricaemic and normouricaemic patients with Down's syndrome.

Authors:  R W Watts; Y S Perera; J Allsop; C Newton; T A Platts-Mills; A D Webster
Journal:  Clin Exp Immunol       Date:  1979-06       Impact factor: 4.330

2.  Purine metabolism in lymphocytes from patients with primary hypogammaglobulinaemia.

Authors:  A D Webster; M North; J Allsop; G L Asherson; R W Watts
Journal:  Clin Exp Immunol       Date:  1978-03       Impact factor: 4.330

3.  Use of intact erythrocytes in the diagnosis of inherited purine and pyrimidine disorders.

Authors:  L D Fairbanks; H A Simmonds; D R Webster
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

4.  HPRT-related hyperuricemia with a novel p.V35M mutation in HPRT1 presenting familial juvenile gout.

Authors:  Eikan Mishima; Takayasu Mori; Yoko Nakajima; Takafumi Toyohara; Koichi Kikuchi; Yoshitsugu Oikawa; Tetsuro Matsuhashi; Yasuhiro Maeda; Takehiro Suzuki; Masataka Kudo; Sadayoshi Ito; Eisei Sohara; Shinichi Uchida; Takaaki Abe
Journal:  CEN Case Rep       Date:  2020-03-03

5.  Double-blind clinical trial of 5-hydroxytryptophan in a case of Lesch-Nyhan syndrome.

Authors:  C D Frith; E C Johnston; M H Joseph; R J Powell; R W Watts
Journal:  J Neurol Neurosurg Psychiatry       Date:  1976-07       Impact factor: 10.154

Review 6.  A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.

Authors:  D G Sculley; P A Dawson; B T Emmerson; R B Gordon
Journal:  Hum Genet       Date:  1992-11       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

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