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An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy.
Am J Med Genet A. 2010 Jan;152A(1):118-23. doi: 10.1002/ajmg.a.33162.
Am J Med Genet A. 2010.
PMID: 20034067
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
Nitschke Y, Baujat G, Botschen U, Wittkampf T, du Moulin M, Stella J, Le Merrer M, Guest G, Lambot K, Tazarourte-Pinturier MF, Chassaing N, Roche O, Feenstra I, Loechner K, Deshpande C, Garber SJ, Chikarmane R, Steinmann B, Shahinyan T, Martorell L, Davies J, Smith WE, Kahler SG, McCulloch M, Wraige E, Loidi L, Höhne W, Martin L, Hadj-Rabia S, Terkeltaub R, Rutsch F.
Nitschke Y, et al. Among authors: wittkampf t.
Am J Hum Genet. 2012 Jan 13;90(1):25-39. doi: 10.1016/j.ajhg.2011.11.020. Epub 2011 Dec 29.
Am J Hum Genet. 2012.
PMID: 22209248
Free PMC article.
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Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy.
Rutsch F, Böyer P, Nitschke Y, Ruf N, Lorenz-Depierieux B, Wittkampf T, Weissen-Plenz G, Fischer RJ, Mughal Z, Gregory JW, Davies JH, Loirat C, Strom TM, Schnabel D, Nürnberg P, Terkeltaub R; GACI Study Group.
Rutsch F, et al. Among authors: wittkampf t.
Circ Cardiovasc Genet. 2008 Dec;1(2):133-40. doi: 10.1161/CIRCGENETICS.108.797704.
Circ Cardiovasc Genet. 2008.
PMID: 20016754
Free PMC article.
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Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.
Rutsch F, Gailus S, Miousse IR, Suormala T, Sagné C, Toliat MR, Nürnberg G, Wittkampf T, Buers I, Sharifi A, Stucki M, Becker C, Baumgartner M, Robenek H, Marquardt T, Höhne W, Gasnier B, Rosenblatt DS, Fowler B, Nürnberg P.
Rutsch F, et al. Among authors: wittkampf t.
Nat Genet. 2009 Feb;41(2):234-9. doi: 10.1038/ng.294. Epub 2009 Jan 11.
Nat Genet. 2009.
PMID: 19136951
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A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient.
Gailus S, Suormala T, Malerczyk-Aktas AG, Toliat MR, Wittkampf T, Stucki M, Nürnberg P, Fowler B, Hennermann JB, Rutsch F.
Gailus S, et al. Among authors: wittkampf t.
J Inherit Metab Dis. 2010 Feb;33(1):17-24. doi: 10.1007/s10545-009-9032-7. Epub 2010 Feb 3.
J Inherit Metab Dis. 2010.
PMID: 20127417
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Functional consequences of mitochondrial DNA deletions in human skin fibroblasts: increased contractile strength in collagen lattices is due to oxidative stress-induced lysyl oxidase activity.
Majora M, Wittkampf T, Schuermann B, Schneider M, Franke S, Grether-Beck S, Wilichowski E, Bernerd F, Schroeder P, Krutmann J.
Majora M, et al. Among authors: wittkampf t.
Am J Pathol. 2009 Sep;175(3):1019-29. doi: 10.2353/ajpath.2009.080832. Epub 2009 Aug 6.
Am J Pathol. 2009.
PMID: 19661442
Free PMC article.
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