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Items: 50

1.

Germline selection shapes human mitochondrial DNA diversity.

Wei W, Tuna S, Keogh MJ, Smith KR, Aitman TJ, Beales PL, Bennett DL, Gale DP, Bitner-Glindzicz MAK, Black GC, Brennan P, Elliott P, Flinter FA, Floto RA, Houlden H, Irving M, Koziell A, Maher ER, Markus HS, Morrell NW, Newman WG, Roberts I, Sayer JA, Smith KGC, Taylor JC, Watkins H, Webster AR, Wilkie AOM, Williamson C; NIHR BioResource–Rare Diseases; 100,000 Genomes Project–Rare Diseases Pilot, Ashford S, Penkett CJ, Stirrups KE, Rendon A, Ouwehand WH, Bradley JR, Raymond FL, Caulfield M, Turro E, Chinnery PF.

Science. 2019 May 24;364(6442). pii: eaau6520. doi: 10.1126/science.aau6520. Epub 2019 May 23.

PMID:
31123110
2.

Clinical practice guideline monitoring children and young people with, or at risk of developing autosomal dominant polycystic kidney disease (ADPKD).

Dudley J, Winyard P, Marlais M, Cuthell O, Harris T, Chong J, Sayer J, Gale DP, Moore L, Turner K, Burrows S, Sandford R.

BMC Nephrol. 2019 Apr 30;20(1):148. doi: 10.1186/s12882-019-1285-2.

3.

Atypical haemolytic uraemic syndrome in the eculizumab era: presentation, response to treatment and evaluation of an eculizumab withdrawal strategy.

Neave L, Gale DP, Cheesman S, Shah R, Scully M.

Br J Haematol. 2019 Mar 27. doi: 10.1111/bjh.15899. [Epub ahead of print]

PMID:
30916388
4.

First identification of PODXL nonsense mutations in autosomal dominant focal segmental glomerulosclerosis.

Lin FJ, Yao L, Hu XQ, Bian F, Ji G, Jiang GR, Gale DP, Ren HQ.

Clin Sci (Lond). 2019 Jan 3;133(1):9-21. doi: 10.1042/CS20180676. Print 2019 Jan 15.

PMID:
30523047
5.

Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease.

Gast C, Marinaki A, Arenas-Hernandez M, Campbell S, Seaby EG, Pengelly RJ, Gale DP, Connor TM, Bunyan DJ, Hodaňová K, Živná M, Kmoch S, Ennis S, Venkat-Raman G.

BMC Nephrol. 2018 Oct 30;19(1):301. doi: 10.1186/s12882-018-1107-y.

6.

The UK guidelines for management and surveillance of Tuberous Sclerosis Complex.

Amin S, Kingswood JC, Bolton PF, Elmslie F, Gale DP, Harland C, Johnson SR, Parker A, Sampson JR, Smeaton M, Wright I, O'Callaghan FJ.

QJM. 2019 Mar 1;112(3):171-182. doi: 10.1093/qjmed/hcy215.

PMID:
30247655
7.

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.

Braun DA, Lovric S, Schapiro D, Schneider R, Marquez J, Asif M, Hussain MS, Daga A, Widmeier E, Rao J, Ashraf S, Tan W, Lusk CP, Kolb A, Jobst-Schwan T, Schmidt JM, Hoogstraten CA, Eddy K, Kitzler TM, Shril S, Moawia A, Schrage K, Khayyat AIA, Lawson JA, Gee HY, Warejko JK, Hermle T, Majmundar AJ, Hugo H, Budde B, Motameny S, Altmüller J, Noegel AA, Fathy HM, Gale DP, Waseem SS, Khan A, Kerecuk L, Hashmi S, Mohebbi N, Ettenger R, Serdaroğlu E, Alhasan KA, Hashem M, Goncalves S, Ariceta G, Ubetagoyena M, Antonin W, Baig SM, Alkuraya FS, Shen Q, Xu H, Antignac C, Lifton RP, Mane S, Nürnberg P, Khokha MK, Hildebrandt F.

J Clin Invest. 2018 Oct 1;128(10):4313-4328. doi: 10.1172/JCI98688. Epub 2018 Sep 4.

8.

MUC1 Makes Me Miserable.

Gale DP, Kleta R.

J Am Soc Nephrol. 2018 Sep;29(9):2257-2258. doi: 10.1681/ASN.2018070742. Epub 2018 Aug 17. No abstract available.

PMID:
30120109
9.

Expert consensus guidelines for the genetic diagnosis of Alport syndrome.

Savige J, Ariani F, Mari F, Bruttini M, Renieri A, Gross O, Deltas C, Flinter F, Ding J, Gale DP, Nagel M, Yau M, Shagam L, Torra R, Ars E, Hoefele J, Garosi G, Storey H.

Pediatr Nephrol. 2019 Jul;34(7):1175-1189. doi: 10.1007/s00467-018-3985-4. Epub 2018 Jul 9. Review.

10.

Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.

Reichold M, Klootwijk ED, Reinders J, Otto EA, Milani M, Broeker C, Laing C, Wiesner J, Devi S, Zhou W, Schmitt R, Tegtmeier I, Sterner C, Doellerer H, Renner K, Oefner PJ, Dettmer K, Simbuerger JM, Witzgall R, Stanescu HC, Dumitriu S, Iancu D, Patel V, Mozere M, Tekman M, Jaureguiberry G, Issler N, Kesselheim A, Walsh SB, Gale DP, Howie AJ, Martins JR, Hall AM, Kasgharian M, O'Brien K, Ferreira CR, Atwal PS, Jain M, Hammers A, Charles-Edwards G, Choe CU, Isbrandt D, Cebrian-Serrano A, Davies B, Sandford RN, Pugh C, Konecki DS, Povey S, Bockenhauer D, Lichter-Konecki U, Gahl WA, Unwin RJ, Warth R, Kleta R.

J Am Soc Nephrol. 2018 Jul;29(7):1849-1858. doi: 10.1681/ASN.2017111179. Epub 2018 Apr 13.

PMID:
29654216
11.

Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.

Osborne AJ, Breno M, Borsa NG, Bu F, Frémeaux-Bacchi V, Gale DP, van den Heuvel LP, Kavanagh D, Noris M, Pinto S, Rallapalli PM, Remuzzi G, Rodríguez de Cordoba S, Ruiz A, Smith RJH, Vieira-Martins P, Volokhina E, Wilson V, Goodship THJ, Perkins SJ.

J Immunol. 2018 Apr 1;200(7):2464-2478. doi: 10.4049/jimmunol.1701695. Epub 2018 Mar 2.

12.

Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report.

Chan MMY, Barnicoat A, Mumtaz F, Aitchison M, Side L, Brittain H, Bates AWH, Gale DP.

BMC Med Genet. 2017 Jul 26;18(1):79. doi: 10.1186/s12881-017-0436-1.

13.

Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.

Papazachariou L, Papagregoriou G, Hadjipanagi D, Demosthenous P, Voskarides K, Koutsofti C, Stylianou K, Ioannou P, Xydakis D, Tzanakis I, Papadaki A, Kallivretakis N, Nikolakakis N, Perysinaki G, Gale DP, Diamantopoulos A, Goudas P, Goumenos D, Soloukides A, Boletis I, Melexopoulou C, Georgaki E, Frysira E, Komianou F, Grekas D, Paliouras C, Alivanis P, Vergoulas G, Pierides A, Daphnis E, Deltas C.

Clin Genet. 2017 Nov;92(5):517-527. doi: 10.1111/cge.13077. Epub 2017 Sep 25.

PMID:
28632965
14.

A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population.

Voskarides K, Stefanou C, Pieri M, Demosthenous P, Felekkis K, Arsali M, Athanasiou Y, Xydakis D, Stylianou K, Daphnis E, Goulielmos G, Loizou P, Savige J, Höhne M, Völker LA, Benzing T, Maxwell PH, Gale DP, Gorski M, Böger C, Kollerits B, Kronenberg F, Paulweber B, Zavros M, Pierides A, Deltas C.

PLoS One. 2017 Mar 23;12(3):e0174274. doi: 10.1371/journal.pone.0174274. eCollection 2017.

15.

Mutations in mitochondrial DNA causing tubulointerstitial kidney disease.

Connor TM, Hoer S, Mallett A, Gale DP, Gomez-Duran A, Posse V, Antrobus R, Moreno P, Sciacovelli M, Frezza C, Duff J, Sheerin NS, Sayer JA, Ashcroft M, Wiesener MS, Hudson G, Gustafsson CM, Chinnery PF, Maxwell PH.

PLoS Genet. 2017 Mar 7;13(3):e1006620. doi: 10.1371/journal.pgen.1006620. eCollection 2017 Mar.

16.

Galactosylation of IgA1 Is Associated with Common Variation in C1GALT1.

Gale DP, Molyneux K, Wimbury D, Higgins P, Levine AP, Caplin B, Ferlin A, Yin P, Nelson CP, Stanescu H, Samani NJ, Kleta R, Yu X, Barratt J.

J Am Soc Nephrol. 2017 Jul;28(7):2158-2166. doi: 10.1681/ASN.2016091043. Epub 2017 Feb 16.

17.

A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen.

Gale DP, Oygar DD, Lin F, Oygar PD, Khan N, Connor TM, Lapsley M, Maxwell PH, Neild GH.

Nephrol Dial Transplant. 2016 Nov;31(11):1908-1914. Epub 2016 Apr 8.

18.

Attitudes in Patients with Autosomal Dominant Polycystic Kidney Disease Toward Prenatal Diagnosis and Preimplantation Genetic Diagnosis.

Swift O, Vilar E, Rahman B, Side L, Gale DP.

Genet Test Mol Biomarkers. 2016 Dec;20(12):741-746. doi: 10.1089/gtmb.2016.0050. Epub 2016 Sep 30.

PMID:
27689416
19.

Type I interferon causes thrombotic microangiopathy by a dose-dependent toxic effect on the microvasculature.

Kavanagh D, McGlasson S, Jury A, Williams J, Scolding N, Bellamy C, Gunther C, Ritchie D, Gale DP, Kanwar YS, Challis R, Buist H, Overell J, Weller B, Flossmann O, Blunden M, Meyer EP, Krucker T, Evans SJ, Campbell IL, Jackson AP, Chandran S, Hunt DP.

Blood. 2016 Dec 15;128(24):2824-2833. Epub 2016 Sep 23.

20.

Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome.

Gross O, Kashtan CE, Rheault MN, Flinter F, Savige J, Miner JH, Torra R, Ars E, Deltas C, Savva I, Perin L, Renieri A, Ariani F, Mari F, Baigent C, Judge P, Knebelman B, Heidet L, Lagas S, Blatt D, Ding J, Zhang Y, Gale DP, Prunotto M, Xue Y, Schachter AD, Morton LCG, Blem J, Huang M, Liu S, Vallee S, Renault D, Schifter J, Skelding J, Gear S, Friede T, Turner AN, Lennon R.

Nephrol Dial Transplant. 2017 Jun 1;32(6):916-924. doi: 10.1093/ndt/gfw095.

21.

Isolated microscopic haematuria of glomerular origin: clinical significance and diagnosis in the 21st century.

Chan MM, Gale DP.

Clin Med (Lond). 2015 Dec;15(6):576-80. doi: 10.7861/clinmedicine.15-6-576.

22.

The role of ADAMTS-13 activity and complement mutational analysis in differentiating acute thrombotic microangiopathies.

Phillips EH, Westwood JP, Brocklebank V, Wong EK, Tellez JO, Marchbank KJ, McGuckin S, Gale DP, Connolly J, Goodship TH, Kavanagh D, Scully MA.

J Thromb Haemost. 2016 Jan;14(1):175-85. doi: 10.1111/jth.13189. Epub 2016 Jan 11.

23.

Combinatorial Conflicting Homozygosity (CCH) analysis enables the rapid identification of shared genomic regions in the presence of multiple phenocopies.

Levine AP, Connor TM, Oygar DD, Neild GH, Segal AW, Maxwell PH, Gale DP.

BMC Genomics. 2015 Mar 10;16:163. doi: 10.1186/s12864-015-1360-4.

24.

A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.

Edwards N, Rice SJ, Raman S, Hynes AM, Srivastava S, Moore I, Al-Hamed M, Xu Y, Santibanez-Koref M, Thwaites DT, Gale DP, Sayer JA.

Clin Kidney J. 2015 Feb;8(1):113-9. doi: 10.1093/ckj/sfu129. Epub 2014 Dec 5.

25.

Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney disease.

Lin F, Bian F, Zou J, Wu X, Shan J, Lu W, Yao Y, Jiang G, Gale DP.

BMC Nephrol. 2014 Nov 7;15:175. doi: 10.1186/1471-2369-15-175.

26.

The 2014International Workshop on Alport Syndrome.

Miner JH, Baigent C, Flinter F, Gross O, Judge P, Kashtan CE, Lagas S, Savige J, Blatt D, Ding J, Gale DP, Midgley JP, Povey S, Prunotto M, Renault D, Skelding J, Turner AN, Gear S.

Kidney Int. 2014 Oct;86(4):679-84. doi: 10.1038/ki.2014.229. Epub 2014 Jul 2.

27.

Genetic testing can resolve diagnostic confusion in Alport syndrome.

Adam J, Connor TM, Wood K, Lewis D, Naik R, Gale DP, Sayer JA.

Clin Kidney J. 2014 Apr;7(2):197-200. Epub 2013 Dec 18.

28.

C3 glomerulopathy: consensus report.

Pickering MC, D'Agati VD, Nester CM, Smith RJ, Haas M, Appel GB, Alpers CE, Bajema IM, Bedrosian C, Braun M, Doyle M, Fakhouri F, Fervenza FC, Fogo AB, Frémeaux-Bacchi V, Gale DP, Goicoechea de Jorge E, Griffin G, Harris CL, Holers VM, Johnson S, Lavin PJ, Medjeral-Thomas N, Paul Morgan B, Nast CC, Noel LH, Peters DK, Rodríguez de Córdoba S, Servais A, Sethi S, Song WC, Tamburini P, Thurman JM, Zavros M, Cook HT.

Kidney Int. 2013 Dec;84(6):1079-89. doi: 10.1038/ki.2013.377. Epub 2013 Oct 30.

29.

Epistatic role of the MYH9/APOL1 region on familial hematuria genes.

Voskarides K, Demosthenous P, Papazachariou L, Arsali M, Athanasiou Y, Zavros M, Stylianou K, Xydakis D, Daphnis E, Gale DP, Maxwell PH, Elia A, Pattaro C, Pierides A, Deltas C.

PLoS One. 2013;8(3):e57925. doi: 10.1371/journal.pone.0057925. Epub 2013 Mar 14.

30.

Incidence of end-stage renal disease in the Turkish-Cypriot population of Northern Cyprus: a population based study.

Connor TM, Oygar DD, Gale DP, Steenkamp R, Nitsch D, Neild GH, Maxwell PH.

PLoS One. 2013;8(1):e54394. doi: 10.1371/journal.pone.0054394. Epub 2013 Jan 17.

31.

How benign is hematuria? Using genetics to predict prognosis.

Gale DP.

Pediatr Nephrol. 2013 Aug;28(8):1183-93. doi: 10.1007/s00467-012-2399-y. Epub 2013 Jan 17. Review.

PMID:
23325022
32.

C3 glomerulonephritis and CFHR5 nephropathy.

Gale DP, Maxwell PH.

Nephrol Dial Transplant. 2013 Feb;28(2):282-8. doi: 10.1093/ndt/gfs441. Epub 2012 Nov 2. Review.

PMID:
23125424
33.

Regulating complement in the kidney: insights from CFHR5 nephropathy.

Gale DP, Pickering MC.

Dis Model Mech. 2011 Nov;4(6):721-6. doi: 10.1242/dmm.008052. Review.

34.

Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigrees.

Athanasiou Y, Voskarides K, Gale DP, Damianou L, Patsias C, Zavros M, Maxwell PH, Cook HT, Demosthenous P, Hadjisavvas A, Kyriacou K, Zouvani I, Pierides A, Deltas C.

Clin J Am Soc Nephrol. 2011 Jun;6(6):1436-46. doi: 10.2215/CJN.09541010. Epub 2011 May 12.

35.

The identification of CFHR5 nephropathy.

Gale DP.

J R Soc Med. 2011 May;104(5):186-90. doi: 10.1258/jrsm.2011.11k013. No abstract available.

36.

Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension.

Bond J, Gale DP, Connor T, Adams S, de Boer J, Gascoyne DM, Williams O, Maxwell PH, Ancliff PJ.

Blood. 2011 Mar 31;117(13):3699-701. doi: 10.1182/blood-2010-12-327569. No abstract available.

37.

Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2alpha gain-of-function mutation.

Formenti F, Beer PA, Croft QP, Dorrington KL, Gale DP, Lappin TR, Lucas GS, Maher ER, Maxwell PH, McMullin MF, O'Connor DF, Percy MJ, Pugh CW, Ratcliffe PJ, Smith TG, Talbot NP, Robbins PA.

FASEB J. 2011 Jun;25(6):2001-11. doi: 10.1096/fj.10-177378. Epub 2011 Mar 9.

38.

Recurrence of complement factor H-related protein 5 nephropathy in a renal transplant.

Vernon KA, Gale DP, de Jorge EG, McLean AG, Galliford J, Pierides A, Maxwell PH, Taube D, Pickering MC, Cook HT.

Am J Transplant. 2011 Jan;11(1):152-5. doi: 10.1111/j.1600-6143.2010.03333.x. Epub 2010 Nov 29.

39.

Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis.

Gale DP, de Jorge EG, Cook HT, Martinez-Barricarte R, Hadjisavvas A, McLean AG, Pusey CD, Pierides A, Kyriacou K, Athanasiou Y, Voskarides K, Deltas C, Palmer A, Frémeaux-Bacchi V, de Cordoba SR, Maxwell PH, Pickering MC.

Lancet. 2010 Sep 4;376(9743):794-801. doi: 10.1016/S0140-6736(10)60670-8. Epub 2010 Aug 25.

40.

HLA has strongest association with IgA nephropathy in genome-wide analysis.

Feehally J, Farrall M, Boland A, Gale DP, Gut I, Heath S, Kumar A, Peden JF, Maxwell PH, Morris DL, Padmanabhan S, Vyse TJ, Zawadzka A, Rees AJ, Lathrop M, Ratcliffe PJ.

J Am Soc Nephrol. 2010 Oct;21(10):1791-7. doi: 10.1681/ASN.2010010076. Epub 2010 Jul 1.

41.

Genetic loci influencing kidney function and chronic kidney disease.

Chambers JC, Zhang W, Lord GM, van der Harst P, Lawlor DA, Sehmi JS, Gale DP, Wass MN, Ahmadi KR, Bakker SJ, Beckmann J, Bilo HJ, Bochud M, Brown MJ, Caulfield MJ, Connell JM, Cook HT, Cotlarciuc I, Davey Smith G, de Silva R, Deng G, Devuyst O, Dikkeschei LD, Dimkovic N, Dockrell M, Dominiczak A, Ebrahim S, Eggermann T, Farrall M, Ferrucci L, Floege J, Forouhi NG, Gansevoort RT, Han X, Hedblad B, Homan van der Heide JJ, Hepkema BG, Hernandez-Fuentes M, Hypponen E, Johnson T, de Jong PE, Kleefstra N, Lagou V, Lapsley M, Li Y, Loos RJ, Luan J, Luttropp K, Maréchal C, Melander O, Munroe PB, Nordfors L, Parsa A, Peltonen L, Penninx BW, Perucha E, Pouta A, Prokopenko I, Roderick PJ, Ruokonen A, Samani NJ, Sanna S, Schalling M, Schlessinger D, Schlieper G, Seelen MA, Shuldiner AR, Sjögren M, Smit JH, Snieder H, Soranzo N, Spector TD, Stenvinkel P, Sternberg MJ, Swaminathan R, Tanaka T, Ubink-Veltmaat LJ, Uda M, Vollenweider P, Wallace C, Waterworth D, Zerres K, Waeber G, Wareham NJ, Maxwell PH, McCarthy MI, Jarvelin MR, Mooser V, Abecasis GR, Lightstone L, Scott J, Navis G, Elliott P, Kooner JS.

Nat Genet. 2010 May;42(5):373-5. doi: 10.1038/ng.566. Epub 2010 Apr 11.

42.

Variation in IGHMBP2 is not associated with IgA nephropathy in independent studies of UK Caucasian and Chinese Han patients.

Lou T, Zhang J, Gale DP, Rees AJ, Rhodes B, Feehally J, Li C, Li Y, Li R, Huang W, Hu B, Leung JC, Lam MF, Lai KN, Wang Y, Maxwell PH.

Nephrol Dial Transplant. 2010 May;25(5):1547-54. doi: 10.1093/ndt/gfp661. Epub 2009 Dec 22. Erratum in: Nephrol Dial Transplant. 2010 Jul;25(7):1.

PMID:
20031928
43.

Evidence for a lack of a direct transcriptional suppression of the iron regulatory peptide hepcidin by hypoxia-inducible factors.

Volke M, Gale DP, Maegdefrau U, Schley G, Klanke B, Bosserhoff AK, Maxwell PH, Eckardt KU, Warnecke C.

PLoS One. 2009 Nov 18;4(11):e7875. doi: 10.1371/journal.pone.0007875.

44.

The role of HIF in immunity.

Gale DP, Maxwell PH.

Int J Biochem Cell Biol. 2010 Apr;42(4):486-94. doi: 10.1016/j.biocel.2009.10.012. Epub 2009 Oct 17. Review.

PMID:
19840863
45.

Erythropoietin administration in humans causes a marked and prolonged reduction in circulating hepcidin.

Ashby DR, Gale DP, Busbridge M, Murphy KG, Duncan ND, Cairns TD, Taube DH, Bloom SR, Tam FW, Chapman R, Maxwell PH, Choi P.

Haematologica. 2010 Mar;95(3):505-8. doi: 10.3324/haematol.2009.013136. Epub 2009 Oct 14.

46.

Plasma hepcidin levels are elevated but responsive to erythropoietin therapy in renal disease.

Ashby DR, Gale DP, Busbridge M, Murphy KG, Duncan ND, Cairns TD, Taube DH, Bloom SR, Tam FW, Chapman RS, Maxwell PH, Choi P.

Kidney Int. 2009 May;75(9):976-81. doi: 10.1038/ki.2009.21. Epub 2009 Feb 11.

47.

Autosomal dominant erythrocytosis and pulmonary arterial hypertension associated with an activating HIF2 alpha mutation.

Gale DP, Harten SK, Reid CD, Tuddenham EG, Maxwell PH.

Blood. 2008 Aug 1;112(3):919-21. doi: 10.1182/blood-2008-04-153718. No abstract available.

48.

End-stage renal failure associated with congenital deafness.

Annear NM, Gale DP, Loughlin S, Dorkins HR, Maxwell PH.

NDT Plus. 2008 Jun;1(3):171-5. doi: 10.1093/ndtplus/sfn019. Epub 2008 Mar 27. No abstract available.

49.

Inadvertent postdialysis anticoagulation due to heparin line locks.

Pepper RJ, Gale DP, Wajed J, Bommayya G, Ashby D, McLean A, Laffan M, Maxwell PH.

Hemodial Int. 2007 Oct;11(4):430-4.

PMID:
17922740
50.

Steroid-responsive functional B12 deficiency in association with transcobalamin II polymorphism 776C --> G.

Gale DP, Cobbold JF, Chataway J.

Eur J Haematol. 2006 Jan;76(1):75-8.

PMID:
16343274

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