Literature DB >> 6630392

Rapid determination of purine enzyme activity in intact and lysed cells using high-performance liquid chromatography with and without radiolabelled substrates.

L D Fairbanks, A Goday, G S Morris, M F Brolsma, H A Simmonds, T Gibson.   

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Year:  1983        PMID: 6630392     DOI: 10.1016/s0378-4347(00)85112-9

Source DB:  PubMed          Journal:  J Chromatogr


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  7 in total

1.  Molecular diagnosis of severe combined immunodeficiency--identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 mutations in a cohort of Chinese and Southeast Asian children.

Authors:  Pamela P W Lee; Koon-Wing Chan; Tong-Xin Chen; Li-Ping Jiang; Xiao-Chuan Wang; Hua-Song Zeng; Xiang-Yuan Chen; Woei-Kang Liew; Jing Chen; Kit-Man Chu; Lee-Lee Chan; Lynette Shek; Anselm C W Lee; Hsin-Hui Yu; Qiang Li; Chen-Guang Xu; Geraldine Sultan-Ugdoracion; Zarina Abdul Latiff; Amir Hamzah Abdul Latiff; Orathai Jirapongsananuruk; Marco H K Ho; Tsz-Leung Lee; Xi-Qiang Yang; Yu-Lung Lau
Journal:  J Clin Immunol       Date:  2010-12-24       Impact factor: 8.317

2.  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

3.  Prenatal exclusion of purine nucleoside phosphorylase deficiency.

Authors:  E Carapella De Luca; M Stegagno; C Dionisi Vici; R Paesano; L D Fairbanks; G S Morris; H A Simmonds
Journal:  Eur J Pediatr       Date:  1986-04       Impact factor: 3.183

4.  B cells as well as T cells form deoxynucleotides from either deoxyadenosine or deoxyguanosine.

Authors:  A Goday; H A Simmonds; G S Morris; L D Fairbanks
Journal:  Clin Exp Immunol       Date:  1984-04       Impact factor: 4.330

5.  Heterogeneity of biochemical, clinical and immunological parameters in severe combined immunodeficiency due to adenosine deaminase deficiency.

Authors:  G Morgan; R J Levinsky; K Hugh-Jones; L D Fairbanks; G S Morris; H A Simmonds
Journal:  Clin Exp Immunol       Date:  1987-12       Impact factor: 4.330

6.  Identification of a 7-basepair deletion in the adenine phosphoribosyltransferase gene as a cause of 2,8-dihydroxyadenine urolithiasis.

Authors:  S Bye; R Mallmann; J Duley; H A Simmonds; J Chen; J A Tischfield; A Sahota
Journal:  Clin Investig       Date:  1994-07

7.  Central nervous system dysfunction and erythrocyte guanosine triphosphate depletion in purine nucleoside phosphorylase deficiency.

Authors:  H A Simmonds; L D Fairbanks; G S Morris; G Morgan; A R Watson; P Timms; B Singh
Journal:  Arch Dis Child       Date:  1987-04       Impact factor: 3.791

  7 in total

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