{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T10:37:20Z","timestamp":1773657440808,"version":"3.50.1"},"reference-count":15,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Archives of Disease in Childhood"],"published-print":{"date-parts":[[1987,4,1]]},"DOI":"10.1136\/adc.62.4.385","type":"journal-article","created":{"date-parts":[[2008,12,22]],"date-time":"2008-12-22T22:13:07Z","timestamp":1229983987000},"page":"385-391","source":"Crossref","is-referenced-by-count":70,"title":["Central nervous system dysfunction and erythrocyte guanosine triphosphate depletion in purine nucleoside phosphorylase deficiency."],"prefix":"10.1136","volume":"62","author":[{"given":"H A","family":"Simmonds","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L D","family":"Fairbanks","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G S","family":"Morris","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Morgan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A R","family":"Watson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Timms","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Singh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","reference":[{"key":"ref_1","first-page":"1010","article-title":"Nucleoside phosphorylase deficiency in a child with severely defective T-cell immunity and normal B-cell immunity","volume":"i:","author":"Giblett, E.R.; Ammann, A.J.; Wara, D.W.; Sandman, R.; Diamond, L.K.","year":"1975","unstructured":"Giblett ER, Ammann AJ, Wara DW, Sandman R, Diamond LK. Nucleoside phosphorylase deficiency in a child with severely defective T-cell immunity and normal B-cell immunity. Lancet 1975;i:1010-3.","journal-title":"Lancet"},{"key":"ref_2","first-page":"\"55","article-title":"Immunological aberrations in purine nucleoside phosphorylase deficiencies. In: Enzyme defects and immune dysfunction","volume-title":"Ciba Foundation Symposium, No 68.) 3Stoop JW","volume":"19","author":"Ammann, A.J.","year":"1979","unstructured":"Ammann AJ. Immunological aberrations in purine nucleoside phosphorylase deficiencies. In: Enzyme defects and immune dysfunction. Amsterdam: Excerpta Medica, 1979: 55-75. (Ciba Foundation Symposium, No 68.) 3Stoop JW, Zegers BJM, Kuis W, et al. Purine nucleoside phosphorylase deficiency: long-term clinical, immunological and metabolic follow-up. In: Seligman M, Hitzig W, eds. Primary immunodeficiencies. North Holland: Elsevier, 1980: 301-11. (INSERM Symposium 16.) 4Hirschorn R. Genetic deficiencics of adenosine deaminase and purine nuclcosidc phosphorylasc: ovcrview, genetic hctcrogencity and therapy. Birth Defects 1983;19:73-81."},{"key":"ref_3","first-page":"610","article-title":"Purine nuclcosidc phosphorylasc (PNP) deficiclcy: a therapcutic challenge","volume-title":"metabolism in mnani IVA","volume":"50","author":"Watson, A.R.; Simmonds, H.A.; Wcbstcr, D.R.; Layward, L.; Evans, D.I.K.","year":"1984","unstructured":"Watson AR, Simmonds HA, Wcbstcr DR, Layward L, Evans DIK. Purine nuclcosidc phosphorylasc (PNP) deficiclcy: a therapcutic challenge. In: Dc Bruyn CHMM, Simmonds HA, Muller MM, eds. Purinte metabolism in mnani IVA. New York: Plenum, 1984:53-9. ' Zabay JM, Dc La Concha EG, Ludcna C, et al. B ccll hyperactivity and abnormalitics in T cell markers and immunoregulatory function in a patient with nucleoside phosphorylase deficiency. Clin Exp l,n,nunol 1982:50:610-6."},{"key":"ref_4","first-page":"772","article-title":"Residual purinc nucleoside phosphorylasc activity in a ncw Dutch patient with PNP-deficiency and cellular immunodeficiency","author":"Rijksen, G.; Zegers, B.J.M.; Spaapcn, L.J.M.","year":"1986","unstructured":"Rijksen G, Zegers BJM, Spaapcn LJM, et al. Residual purinc nucleoside phosphorylasc activity in a ncw Dutch patient with PNP-deficiency and cellular immunodeficiency. Peditar Res 1986;195:772.","journal-title":"Peditar Res"},{"issue":"56","key":"ref_5","first-page":"563","article-title":"Purine nuclcoside phosphorylase deficicncy associated with a fatal lymphoproliferative disorder","volume":"1981","author":"Watson, A.R.; Evans, D.I.K.; Marsden, H.B.; Miller, V.; Rogers, P.A.","unstructured":"Watson AR, Evans DIK, Marsden HB, Miller V, Rogers PA. Purine nuclcoside phosphorylase deficicncy associated with a fatal lymphoproliferative disorder. Arch Dis Child 1981:56: 563-5.","journal-title":"Arch Dis Child"},{"key":"ref_6","first-page":"481","article-title":"Erythrocyte GTP depletion in PNP deficiency presenting with hacmolytic anaemia and hypouricaemia","volume-title":"Pturine and pyrihniditne mnetabolismn in mtiani VA","author":"Simmonds, H.A.; Fairbanks, L.D.; Morris, G.S.; Singh, Timms P.; B, Bold; A.","year":"1986","unstructured":"Simmonds HA, Fairbanks LD, Morris GS, Timms P. Singh B, Bold A. Erythrocyte GTP depletion in PNP deficiency presenting with hacmolytic anaemia and hypouricaemia. In: Nyhan WL, Thompson LF. Watts RWE. eds. Pturine and pyrihniditne mnetabolismn in mtiani VA. New York: Plenum. 1986:481-6."},{"key":"ref_7","first-page":"2398","volume":"136","author":"lInmnuntol, J.","year":"1986","unstructured":"J lInmnuntol 1986;136:2398-407."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1016\/0006-2952(82)90324-0","article-title":"GTP depletion and other erythrocyte abnormalities in inherited PNP deficicncy","volume":"31","year":"1982","unstructured":"Simmonds HA, Watson AR, Webster DR. Sahota A, Perrett D. GTP depletion and other erythrocyte abnormalities in inherited PNP deficicncy. Biochemn Pharmnacol 1982;31:941-6.","journal-title":"Biochemn Pharmnacol"},{"key":"ref_9","first-page":"43","article-title":"Clinical, post mortem, biochemical and therapeutic observations on the Lesch-Nyhan syndrome with particular reference to the neurological manifestations","author":"Watts, R.W.E.; Allsop, Spellacy E.Gibbs D.A.; J, Mckeran; RO, Slavin; G.E.","year":"1982","unstructured":"Watts RWE, Spellacy E. Gibbs DA. Allsop J, Mckeran RO, Slavin GE. Clinical, post mortem, biochemical and therapeutic observations on the Lesch-Nyhan syndrome with particular reference to the neurological manifestations. Q J Med 1982:201: 43-78.","journal-title":"Q J Med"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/S0378-4347(00)82011-3","article-title":"Use of a fundamental elution protocol for the development of a reverse phase HPLC method enabling rapid simultaneous determination of purine, pyrimidines and allied compounds in biological fluids","volume":"344","author":"HA, Morris G.S.Simmonds","year":"1985","unstructured":"Morris GS. Simmonds HA. Use of a fundamental elution protocol for the development of a reverse phase HPLC method enabling rapid simultaneous determination of purine, pyrimidines and allied compounds in biological fluids. J Chromatogr 1985;344:101-13.","journal-title":"J Chromatogr"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1016\/S0378-4347(00)85112-9","article-title":"Rapid determination of purine enzyme activity in intact and lysed cells using high-performance liquid chromatography with and without radiolabelled substrates","volume":"276","author":"Fairbanks, L.D.; Goday, A.; Brolsma, Morris G.S.; MFJ, Simmonds; HA, Gibson; T.","year":"1983","unstructured":"Fairbanks LD, Goday A, Morris GS. Brolsma MFJ, Simmonds HA, Gibson T. Rapid determination of purine enzyme activity in intact and lysed cells using high-performance liquid chromatography with and without radiolabelled substrates. J Chromnatogr 1983;276:427-32.","journal-title":"J Chromnatogr"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1007\/BF01138162","article-title":"dATP accumulation and ATP depletion in platelets in adenosine deaminase deficiency: significance for the immune response'?","volume":"4","author":"A, Simmonds H.A.Goday; LD, Morris G.S.Fairbanks; RJ, Levinsky","year":"1984","unstructured":"Simmonds HA. Goday A, Morris GS. Fairbanks LD, Levinsky RJ. dATP accumulation and ATP depletion in platelets in adenosine deaminase deficiency: significance for the immune response'? Biosci Rep 1984;4:809-14.","journal-title":"Biosci Rep"},{"issue":"9","key":"ref_13","first-page":"\"141","article-title":"Decreased S-adenosylhomocysteine hydrolase in inborn errors of purine metabolism","volume":"1980","author":"JE, Ih Kaminska; IH, Fox","year":"1979","unstructured":"Ih Kaminska JE, Fox IH. Decreased S-adenosylhomocysteine hydrolase in inborn errors of purine metabolism. J Lab Cliii Med 1980X)9%:141-7. '7 Hershfield MS, Kredich NM, Ownby H, Buckley R. In vivo inactivation of erythrocyte S-adenosylhomocysteine hydrolase by 2'deoxyadenosine in adenosine deaminase deficient patients. J Cliii Inivest 1979;63:807-11.","journal-title":"J Lab Cliii Med; In vivo inactivation of erythrocyte S-adenosylhomocysteine hydrolase by 2'deoxyadenosine in adenosine deaminase deficient patients"},{"issue":"61","key":"ref_14","first-page":"9","article-title":"Correlations between purine levels, clinical and immunological status in ADA deficiency","volume":"63","author":"Simmonds, H.A.; Fairbanks, L.D.; Morris, G.S.; Webster, D.R.; Morgan, G.; Levinsky, R.J.","year":"1986","unstructured":"Simmonds HA, Fairbanks LD, Morris GS, Webster DR, Morgan G, Levinsky RJ. Correlations between purine levels, clinical and immunological status in ADA deficiency. In: Nyhan WL, Thompson LF, Watts RWE, eds. Purinte amid pyritnidine metabolism in mnan VA. New York: Plenum. 1986:93-101. '9 Simmonds HA, Webster DR, Watson AR, Barratt TM, Wilson J. Erythrocyte GTP depletion associated with severe muscular hypotonia in thrce inherited disorders of purine metabolism. Cliii Sci 1982;63:61. 2(1 Cohen MB, Maybaum J, Sadee W. Guanine nucleotide depletion and toxicity in mouse T lymphoma (S-49) cells. J Biol Chem 1981;256:8713-7.","journal-title":"Cliii Sci; amid pyritnidine metabolism in mnan VA"},{"key":"ref_15","first-page":"313","article-title":"Autoimmune haemolytic anaemia as a manifestation of T-suppressor-cell deficiency. Clin Exp Immunol","volume":"33","author":"Horowitz, S.D.; Borcherding, W.; Hong, R.","year":"1984","unstructured":"Horowitz SD, Borcherding W, Hong R. Autoimmune haemolytic anaemia as a manifestation of T-suppressor-cell deficiency. Clin Exp Immunol 1984;33:313-23."}],"container-title":["Archives of Disease in Childhood"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/adc.62.4.385","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,25]],"date-time":"2020-09-25T23:57:42Z","timestamp":1601078262000},"score":1,"resource":{"primary":{"URL":"https:\/\/adc.bmj.com\/lookup\/doi\/10.1136\/adc.62.4.385"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,4,1]]},"references-count":15,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1987,4,1]]}},"URL":"https:\/\/doi.org\/10.1136\/adc.62.4.385","relation":{},"ISSN":["0003-9888","1468-2044"],"issn-type":[{"value":"0003-9888","type":"print"},{"value":"1468-2044","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987,4,1]]}}}