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Items: 1 to 50 of 278

1.

Chronic hemolytic anemia and accumulation of pyrimidine nucleotide metabolites.

Karadsheh NS, Simmonds HA.

Int J Lab Hematol. 2015 Aug;37(4):e72-4. doi: 10.1111/ijlh.12310. Epub 2014 Nov 11. No abstract available.

PMID:
25387590
2.

4-Pyridone-3-carboxamide-1-β-D-ribonucleoside triphosphate (4PyTP), a novel NAD metabolite accumulating in erythrocytes of uremic children: a biomarker for a toxic NAD analogue in other tissues?

Synesiou E, Fairbanks LD, Simmonds HA, Slominska EM, Smolenski RT, Carrey EA.

Toxins (Basel). 2011 Jun;3(6):520-37. doi: 10.3390/toxins3060520. Epub 2011 Jun 7.

3.

A population study of Lesch-Nyhan disease in the UK.

McCarthy GT, Green EM, Ogunbona O, Simmonds HA, Fairbanks L, Pountney T, Bryant E.

Dev Med Child Neurol. 2011 Jan;53(1):34-9. doi: 10.1111/j.1469-8749.2010.03786.x. Epub 2010 Sep 24.

4.

Metabolism of 4-pyridone-3-carboxamide-1-beta-D-ribonucleoside triphosphate and its nucleoside precursor in the erythrocytes.

Slominska EM, Orlewska C, Yuen A, Osman L, Romaszko P, Sokolowska E, Foks H, Simmonds HA, Yacoub MH, Smolenski RT.

Nucleosides Nucleotides Nucleic Acids. 2008 Jun;27(6):830-4. doi: 10.1080/15257770802146452.

PMID:
18600548
5.
6.

4-pyridone-3-carboxamide ribonucleoside triphosphate accumulating in erythrocytes in end stage renal failure originates from tryptophan metabolism.

Laurence A, Edbury SM, Marinaki AM, Smolenski RT, Goldsmith DJ, Simmonds HA, Carrey EA.

Clin Exp Med. 2007 Dec;7(4):135-41. doi: 10.1007/s10238-007-0137-8. Epub 2008 Jan 11.

PMID:
18188525
7.

The neuroleptic chlorpromazine inhibits the cationic and stimulates the anionic phospholipid precursor synthesis in human lymphocytes.

Staub M, Stenger A, Sumeg R, Spasokoukotskaja T, Fairbanks LD, Simmonds HA, Keszler G.

Nucleosides Nucleotides Nucleic Acids. 2006;25(9-11):1133-9.

PMID:
17065078
8.

Familial juvenile hyperuricaemic nephropathy is not such a rare genetic metabolic purine disease in Britain.

Simmonds HA, Cameron JS, Goldsmith DJ, Fairbanks LD, Raman GV.

Nucleosides Nucleotides Nucleic Acids. 2006;25(9-11):1071-5.

PMID:
17065066
9.

The novel nucleotide 4KNTP, in high concentrations in erythrocytes of renal failure children: a comparison with accumulation of other putative precursors in the plasma.

Carrey EA, Synesiou E, Simmonds HA, Fairbanks LD.

Nucleosides Nucleotides Nucleic Acids. 2006;25(9-11):1051-4.

PMID:
17065063
10.

A novel nucleotide found in human erythrocytes, 4-pyridone-3-carboxamide-1-beta-D-ribonucleoside triphosphate.

Slominska EM, Carrey EA, Foks H, Orlewska C, Wieczerzak E, Sowinski P, Yacoub MH, Marinaki AM, Simmonds HA, Smolenski RT.

J Biol Chem. 2006 Oct 27;281(43):32057-64. Epub 2006 Aug 17.

11.

An unusual patient with kidney stones composed of 1-methyluric acid.

Davies PM, Fairbanks LD, Safranow K, Bending MR, Simmonds HA.

Urol Res. 2006 Feb;34(1):58-60. Epub 2006 Jan 6.

PMID:
16397778
12.

HPRT deficiency as the cause of ESRD in a 24-year-old patient: a very rare presentation of the disorder.

Kassimatis TI, Simmonds HA, Goudas PC, Marinaki AM, Fairbanks LD, Diamandopoulos AA.

J Nephrol. 2005 Jul-Aug;18(4):447-51.

PMID:
16245252
13.

Aprt/Opn double knockout mice: osteopontin is a modifier of kidney stone disease severity.

Vernon HJ, Osborne C, Tzortzaki EG, Yang M, Chen J, Rittling SR, Denhardt DT, Buyske S, Bledsoe SB, Evan AP, Fairbanks L, Simmonds HA, Tischfield JA, Sahota A.

Kidney Int. 2005 Sep;68(3):938-47.

14.

Pyrimidine pathways in health and disease.

Löffler M, Fairbanks LD, Zameitat E, Marinaki AM, Simmonds HA.

Trends Mol Med. 2005 Sep;11(9):430-7. Review.

PMID:
16098809
15.

Hereditary hyperuricemia and renal disease.

Cameron JS, Simmonds HA.

Semin Nephrol. 2005 Jan;25(1):9-18. Review.

PMID:
15660329
16.
17.

Severe impairment of nucleotide synthesis through inhibition of mitochondrial respiration.

Gattermann N, Dadak M, Hofhaus G, Wulfert M, Berneburg M, Loeffler ML, Simmonds HA.

Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1275-9.

PMID:
15571245
18.

Elevated erythrocyte CDP-choline levels associated with beta-thalassaemia in patients with transfusion independent anaemia.

Laurence AD, Layton M, Duley JA, Simmonds HA.

Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1265-7.

PMID:
15571243
19.

Adenylosuccinate lyase deficiency--first British case.

Marinaki AM, Champion M, Kurian MA, Simmonds HA, Marie S, Vincent MF, van den Berghe G, Duley JA, Fairbanks LD.

Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1231-3.

PMID:
15571235
20.

Nucleotide degradation products in cerebrospinal fluid (CSF) in inherited and acquired pathologies.

Fairbanks LD, Harris JC, Duley JA, Simmonds HA.

Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1185-7.

PMID:
15571227
21.

An unusual pyridine nucleotide accumulating in erythrocytes: its identity and positive correlation with degree of renal failure.

Carrey EA, Smolenski RT, Edbury SM, Laurence A, Marinaki AM, Duley JA, Zhu LM, Goldsmith DJ, Simmonds HA.

Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1135-9.

PMID:
15571217
22.

Dedication to Francoise Roch-Ramel.

Simmonds HA.

Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1081-2. No abstract available.

PMID:
15571206
23.

A mutant of Sindbis virus which is able to replicate in cells with reduced CTP makes a replicase/transcriptase with a decreased Km for CTP.

Li ML, Lin YH, Simmonds HA, Stollar V.

J Virol. 2004 Sep;78(18):9645-51. Erratum in: J Virol. 2008 Jul;82(13):6785.

24.

Diagnosis of adenine phosphoribosyltransferase deficiency as the underlying cause of renal failure in a renal transplant recipient.

Cassidy MJ, McCulloch T, Fairbanks LD, Simmonds HA.

Nephrol Dial Transplant. 2004 Mar;19(3):736-8. No abstract available.

PMID:
14767036
25.

Familial juvenile hyperuricaemic nephropathy.

Fairbanks LD, Marinaki AM, Simmonds HA, Cameron JS.

QJM. 2004 Feb;97(2):106-7. No abstract available.

PMID:
14747627
26.

Mycophenolate mofetil, an inhibitor of inosine monophosphate dehydrogenase, causes a paradoxical elevation of GTP in erythrocytes of renal transplant patients.

Goldsmith D, Carrey EA, Edbury S, Smolenski RT, Jagodzinski P, Simmonds HA.

Clin Sci (Lond). 2004 Jul;107(1):63-8.

PMID:
14723604
27.

Mycophenolate mofetil treatment following renal transplantation decreases GTP concentrations in mononuclear leucocytes.

Jagodzinski P, Lizakowski S, Smolenski RT, Slominska EM, Goldsmith D, Simmonds HA, Rutkowski B.

Clin Sci (Lond). 2004 Jul;107(1):69-74.

PMID:
14723603
28.

Origin and characteristics of an unusual pyridine nucleotide accumulating in erythrocytes: positive correlation with degree of renal failure.

Carrey EA, Smolenski RT, Edbury SM, Laurence A, Marinaki AM, Duley JA, Zhu L, Goldsmith DJ, Simmonds HA.

Clin Chim Acta. 2003 Sep;335(1-2):117-29.

PMID:
12927693
29.

Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation.

Bingham C, Ellard S, van't Hoff WG, Simmonds HA, Marinaki AM, Badman MK, Winocour PH, Stride A, Lockwood CR, Nicholls AJ, Owen KR, Spyer G, Pearson ER, Hattersley AT.

Kidney Int. 2003 May;63(5):1645-51.

30.

Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency.

Sumi S, Marinaki AM, Arenas M, Fairbanks L, Shobowale-Bakre M, Rees DC, Thein SL, Ansari A, Sanderson J, De Abreu RA, Simmonds HA, Duley JA.

Hum Genet. 2002 Oct;111(4-5):360-7. Epub 2002 Aug 15.

PMID:
12384777
31.

Early treatment with allopurinol in familial juvenile hyerpuricaemic nephropathy (FJHN) ameliorates the long-term progression of renal disease.

Fairbanks LD, Cameron JS, Venkat-Raman G, Rigden SP, Rees L, Van'T Hoff W, Mansell M, Pattison J, Goldsmith DJ, Simmonds HA.

QJM. 2002 Sep;95(9):597-607.

PMID:
12205338
32.

Severe pyridine nucleotide depletion in fibroblasts from Lesch-Nyhan patients.

Fairbanks LD, Jacomelli G, Micheli V, Slade T, Simmonds HA.

Biochem J. 2002 Aug 15;366(Pt 1):265-72.

33.

Accumulation of plasma N-methyl-2-pyridone-5-carboxamide in patients with chronic renal failure.

Slominska EM, Smolenski RT, Szolkiewicz M, Leaver N, Rutkowski B, Simmonds HA, Swierczynski J.

Mol Cell Biochem. 2002 Feb;231(1-2):83-8.

PMID:
11952169
34.
35.

ADA activity and DATP levels in erythrocytes after bone marrow transplantation.

Fairbanks LD, Simmonds HA, Duley JA, Gaspar HB, Flood T, Steward CA.

Adv Exp Med Biol. 2000;486:51-5. No abstract available.

PMID:
11783527
36.

Carrier erythrocyte entrapped adenosine deaminase therapy in adenosine deaminase deficiency.

Bax BE, Bain MD, Fairbanks LD, Simmonds HA, Webster AD, Chalmers RA.

Adv Exp Med Biol. 2000;486:47-50. No abstract available.

PMID:
11783525
37.

Screening for purine and pyrimidine disorders using dried urine spots.

Fairbanks LD, Escuredo E, Duley JA, Simmonds HA.

Adv Exp Med Biol. 2000;486:383-8. No abstract available.

PMID:
11783520
38.

Adenoviruses encoding HPRT correct the biochemical abnormalities fully only in HPRT-deficient human cell lines: importance of species differences.

Southgate T, Bain D, Fairbanks LD, Morelli A, Larregina A, Simmonds HA, Castro M, Lowenstein P.

Adv Exp Med Biol. 2000;486:35-40. No abstract available.

PMID:
11783514
39.

Partial hypoxanthine-Guanine phosphoribosyltransferase deficiency as the unsuspected cause of renal disease spanning three generations: a cautionary tale.

Augoustides-Savvopoulou P, Papachristou F, Fairbanks LD, Dimitrakopoulos K, Marinaki AM, Simmonds HA.

Pediatrics. 2002 Jan;109(1):E17.

PMID:
11773585
40.

Successful HLA-identical bone marrow transplantation in a patient with PNP deficiency using busulfan and fludarabine for conditioning.

Classen CF, Schulz AS, Sigl-Kraetzig M, Hoffmann GF, Simmonds HA, Fairbanks L, Debatin KM, Friedrich W.

Bone Marrow Transplant. 2001 Jul;28(1):93-6.

41.

Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency.

Marinaki AM, Escuredo E, Duley JA, Simmonds HA, Amici A, Naponelli V, Magni G, Seip M, Ben-Bassat I, Harley EH, Thein SL, Rees DC.

Blood. 2001 Jun 1;97(11):3327-32.

42.

Mycophenolic acid-induced GTP depletion also affects ATP and pyrimidine synthesis in mitogen-stimulated primary human T-lymphocytes.

Qiu Y, Fairbanks LD, Rückermann K, Hawrlowicz CM, Richards DF, Kirschbaum B, Simmonds HA.

Transplantation. 2000 Mar 15;69(5):890-7.

PMID:
10755546
43.

Adenoviruses encoding HPRT correct biochemical abnormalities of HPRT-deficient cells and allow their survival in negative selection medium.

Southgate TD, Bain D, Fairbanks LD, Morelli AE, Larregina AT, Simmonds HA, Castro MG, Löwenstein PR.

Metab Brain Dis. 1999 Dec;14(4):205-21.

PMID:
10850548
44.

Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical features.

Köhler M, Assmann B, Bräutigam C, Storm W, Marie S, Vincent MF, Van den Berghe G, Simmonds HA, Hoffmann GF.

Eur J Paediatr Neurol. 1999;3(1):3-6.

PMID:
10727185
45.

Effect of methotrexate on blood purine and pyrimidine levels in patients with rheumatoid arthritis.

Smoleńska Z, Kaznowska Z, Zarówny D, Simmonds HA, Smoleński RT.

Rheumatology (Oxford). 1999 Oct;38(10):997-1002.

PMID:
10534552
46.

Simultaneous separation by high-performance liquid chromatography of carbamoyl aspartate, carbamoyl phosphate and dihydroorotic acid.

Fairbanks LD, Carrey EA, Rückemann K, Swaminathan R, Kirschbaum B, Simmonds HA.

J Chromatogr B Biomed Sci Appl. 1999 Sep 24;732(2):487-93.

PMID:
10517371
47.

Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency.

Wang L, Ou X, Sebesta I, Vondrak K, Krijt J, Elleder M, Poupetova H, Ledvinova J, Zeman J, Simmonds HA, Tischfield JA, Sahota A.

Mol Genet Metab. 1999 Sep;68(1):78-85.

PMID:
10479485
48.

Methotrexate inhibits the first committed step of purine biosynthesis in mitogen-stimulated human T-lymphocytes: a metabolic basis for efficacy in rheumatoid arthritis?

Fairbanks LD, Rückemann K, Qiu Y, Hawrylowicz CM, Richards DF, Swaminathan R, Kirschbaum B, Simmonds HA.

Biochem J. 1999 Aug 15;342 ( Pt 1):143-52.

49.

Novel mechanism for the impairment of cell proliferation in HIV-1 infection.

Bofill M, Borthwick NJ, Simmonds HA.

Immunol Today. 1999 Jun;20(6):258-61. Review.

PMID:
10354550
50.

Diagnosis of molybdenum cofactor deficiency.

Simmonds HA, Hoffmann GF, Pérignon JL, Micheli V, van Gennip AH.

Lancet. 1999 Feb 20;353(9153):675. No abstract available.

PMID:
10030363

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