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Items: 1 to 20 of 39

1.

Safety and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase in Mitochondrial Neurogastrointestinal Encephalomyopathy.

Levene M, Bain MD, Moran NF, Nirmalananthan N, Poulton J, Scarpelli M, Filosto M, Mandel H, MacKinnon AD, Fairbanks L, Pacitti D, Bax BE.

J Clin Med. 2019 Apr 5;8(4). pii: E457. doi: 10.3390/jcm8040457.

2.

Novel ADA2 mutation presenting with neutropenia, lymphopenia and bone marrow failure in patients with deficiency in adenosine deaminase 2 (DADA2).

Ghurye RR, Sundaram K, Smith F, Clark B, Simpson MA, Fairbanks L, Adhya Z, Mufti GJ, Marsh JCW, Ibrahim MAA.

Br J Haematol. 2019 Mar 28. doi: 10.1111/bjh.15896. [Epub ahead of print] No abstract available.

PMID:
30924144
3.

Beware of the Uric Acid: Severe Azathioprine Myelosuppression in a Patient With Juvenile Idiopathic Arthritis and Hereditary Xanthinuria.

Tanev D, Peteva P, Fairbanks L, Marinaki A, Ivanova M, Alaikov T, Shivarov V.

J Clin Rheumatol. 2018 Jun 18. doi: 10.1097/RHU.0000000000000838. [Epub ahead of print] No abstract available.

PMID:
29916968
4.

Uric acid, an important screening tool to detect inborn errors of metabolism: a case series.

Jasinge E, Kularatnam GAM, Dilanthi HW, Vidanapathirana DM, Jayasena KLSPKM, Chandrasiri NDPD, Indika NLR, Ratnayake PD, Gunasekara VN, Fairbanks LD, Stiburkova B.

BMC Res Notes. 2017 Sep 6;10(1):454. doi: 10.1186/s13104-017-2795-2.

5.

Adenine phosphoribosyltransferase deficiency in the United Kingdom: two novel mutations and a cross-sectional survey.

Balasubramaniam GS, Arenas-Hernandez M, Escuredo E, Fairbanks L, Marinaki T, Mapplebeck S, Sheaff M, Almond MK.

Clin Kidney J. 2016 Dec;9(6):800-806. Epub 2016 Oct 3.

6.

IL-12 and IL-4 activate a CD39-dependent intrinsic peripheral tolerance mechanism in CD8(+) T cells.

Noble A, Mehta H, Lovell A, Papaioannou E, Fairbanks L.

Eur J Immunol. 2016 Jun;46(6):1438-48. doi: 10.1002/eji.201545939. Epub 2016 Apr 8.

7.

Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities.

Adams SP, Wilson M, Harb E, Fairbanks L, Xu-Bayford J, Brown L, Kearney L, Madkaikar M, Bobby Gaspar H.

Clin Immunol. 2015 Dec;161(2):174-9. doi: 10.1016/j.clim.2015.08.001. Epub 2015 Aug 5.

PMID:
26255240
8.

An unusual cause of "pink diaper" in an infant: Answers.

Amin R, Eid L, Edvardsson VO, Fairbanks L, Moudgil A.

Pediatr Nephrol. 2016 Apr;31(4):577-80. doi: 10.1007/s00467-015-3073-y. Epub 2015 Apr 1. No abstract available.

9.

An unusual cause of pink diapers in an infant: Questions and Answers.

Amin R, Eid L, Edvardsson VO, Fairbanks L, Moudgil A.

Pediatr Nephrol. 2016 Apr;31(4):575, 577-80. doi: 10.1007/s00467-015-3072-z. Epub 2015 Apr 1. No abstract available.

10.

Pleural fluid adenosine deaminase (pfADA) in the diagnosis of tuberculous effusions in a low incidence population.

Arnold DT, Bhatnagar R, Fairbanks LD, Zahan-Evans N, Clive AO, Morley AJ, Medford AR, Maskell NA.

PLoS One. 2015 Feb 3;10(2):e0113047. doi: 10.1371/journal.pone.0113047. eCollection 2015.

11.

Modern diagnostic approach to hereditary xanthinuria.

Mraz M, Hurba O, Bartl J, Dolezel Z, Marinaki A, Fairbanks L, Stiburkova B.

Urolithiasis. 2015 Feb;43(1):61-7. doi: 10.1007/s00240-014-0734-4. Epub 2014 Nov 6.

PMID:
25370766
12.

The effect of anterograde persufflation on energy charge and hepatocyte function in donation after cardiac death livers unsuitable for transplant.

Khorsandi SE, Jitraruch S, Fairbanks L, Cotoi C, Jassem W, Vilca-Melendez H, Prachalias A, Dhawan A, Heaton N, Srinivasan P.

Liver Transpl. 2014 Jun;20(6):698-704. doi: 10.1002/lt.23864.

13.

Preclinical demonstration of lentiviral vector-mediated correction of immunological and metabolic abnormalities in models of adenosine deaminase deficiency.

Carbonaro DA, Zhang L, Jin X, Montiel-Equihua C, Geiger S, Carmo M, Cooper A, Fairbanks L, Kaufman ML, Sebire NJ, Hollis RP, Blundell MP, Senadheera S, Fu PY, Sahaghian A, Chan RY, Wang X, Cornetta K, Thrasher AJ, Kohn DB, Gaspar HB.

Mol Ther. 2014 Mar;22(3):607-622. doi: 10.1038/mt.2013.265. Epub 2013 Nov 20.

14.

Validation of a HPLC method for the measurement of erythrocyte encapsulated thymidine phosphorylase (EE-TP) activity.

Fairbanks LD, Levene M, Bax BE.

J Pharm Biomed Anal. 2013 Mar 25;76:8-12. doi: 10.1016/j.jpba.2012.12.006. Epub 2012 Dec 17.

PMID:
23291437
15.

Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency.

la Marca G, Canessa C, Giocaliere E, Romano F, Duse M, Malvagia S, Lippi F, Funghini S, Bianchi L, Della Bona ML, Valleriani C, Ombrone D, Moriondo M, Villanelli F, Speckmann C, Adams S, Gaspar BH, Hershfield M, Santisteban I, Fairbanks L, Ragusa G, Resti M, de Martino M, Guerrini R, Azzari C.

J Allergy Clin Immunol. 2013 Jun;131(6):1604-10. doi: 10.1016/j.jaci.2012.08.054. Epub 2012 Dec 30.

PMID:
23280131
16.

Preclinical toxicity evaluation of erythrocyte-encapsulated thymidine phosphorylase in BALB/c mice and beagle dogs: an enzyme-replacement therapy for mitochondrial neurogastrointestinal encephalomyopathy.

Levene M, Coleman DG, Kilpatrick HC, Fairbanks LD, Gangadharan B, Gasson C, Bax BE.

Toxicol Sci. 2013 Jan;131(1):311-24. doi: 10.1093/toxsci/kfs278. Epub 2012 Sep 12.

PMID:
22977166
17.

The β-globin locus control region in combination with the EF1α short promoter allows enhanced lentiviral vector-mediated erythroid gene expression with conserved multilineage activity.

Montiel-Equihua CA, Zhang L, Knight S, Saadeh H, Scholz S, Carmo M, Alonso-Ferrero ME, Blundell MP, Monkeviciute A, Schulz R, Collins M, Takeuchi Y, Schmidt M, Fairbanks L, Antoniou M, Thrasher AJ, Gaspar HB.

Mol Ther. 2012 Jul;20(7):1400-9. doi: 10.1038/mt.2012.50. Epub 2012 Mar 20.

18.

Purine nucleoside phosphorylase deficiency: a mutation update.

Walker PL, Corrigan A, Arenas M, Escuredo E, Fairbanks L, Marinaki A.

Nucleosides Nucleotides Nucleic Acids. 2011 Dec;30(12):1243-7. doi: 10.1080/15257770.2011.630852.

PMID:
22132981
19.

Hematopoietic stem cell gene therapy for adenosine deaminase-deficient severe combined immunodeficiency leads to long-term immunological recovery and metabolic correction.

Gaspar HB, Cooray S, Gilmour KC, Parsley KL, Zhang F, Adams S, Bjorkegren E, Bayford J, Brown L, Davies EG, Veys P, Fairbanks L, Bordon V, Petropoulou T, Kinnon C, Thrasher AJ.

Sci Transl Med. 2011 Aug 24;3(97):97ra80. doi: 10.1126/scitranslmed.3002716. Erratum in: Sci Transl Med. 2013 Jan 16;5(168):168er1. Petropolou, Theoni [corrected to Petropoulou, Theoni].

20.

Purine nucleoside phosphorylase deficiency with a novel PNP gene mutation: a first case report from India.

Madkaikar MR, Kulkarni S, Utage P, Fairbanks L, Ghosh K, Marinaki A, Desai M.

BMJ Case Rep. 2011 Dec 8;2011. pii: bcr0920114804. doi: 10.1136/bcr.09.2011.4804.

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