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Publikationer i urvalet

12 träffar

Bibliografisk träff 2014-07-17

Succinylacetone as primary marker to detect tyrosinemia type I in newborns and its measurement by newborn screening programs.

De Jesús VR, Adam BW, Mandel D, Cuthbert CD, Matern D.

Mol Genet Metab · research-article; journal article · DOI 10.1016/j.ymgme.2014.07.010

Bibliografisk träff 2012-08-11

Performance of succinylacetone assays and their associated proficiency testing outcomes.

Adam BW, Hall EM, Meredith NK, Lim TH, Haynes CA, De Jesus VR, Hannon WH.

Clin Biochem · research support, u.s. gov't, p.h.s.; research-article; research support, u.s. gov't, non-p.h.s.; journal article · DOI 10.1016/j.clinbiochem.2012.08.007

Bibliografisk träff 2012-04-12

Evaluation of a novel, commercially available mass spectrometry kit for newborn screening including succinylacetone without hydrazine.

Metz TF, Mechtler TP, Merk M, Gottschalk A, Lukačin R, Herkner KR, Kasper DC.

Clin Chim Acta · evaluation study; journal article · DOI 10.1016/j.cca.2012.04.007

Bibliografisk träff 2012-03-29

Plasma succinylacetone is persistently raised after liver transplantation in tyrosinaemia type 1.

Bartlett DC, Preece MA, Holme E, Lloyd C, Newsome PN, McKiernan PJ.

J Inherit Metab Dis · journal article · DOI 10.1007/s10545-012-9482-1

Bibliografisk träff 2012-02-01

[Application of succinylacetone levels measurement in the blood and urine in the diagnosis of tyrosinemia type 1].

Han LS, Ye J, Qiu WJ, Zhang HW, Wang Y, Ji WJ, Gao XL, Li XY, Jin J, Gu XF.

Zhonghua Er Ke Za Zhi · research support, u.s. gov't, non-p.h.s.; journal article; english abstract

Bibliografisk träff 2010-03-29

skn-1-Dependent and -independent regulation of aip-1 expression following metabolic stress in Caenorhabditis elegans.

Ferguson AA, Springer MG, Fisher AL.

Mol Cell Biol · research-article; journal article; research support, n.i.h., extramural · DOI 10.1128/mcb.01340-09

Bibliografisk träff 2007-01-01

Analysis of succinylacetone, as a Girard T derivative, in urine and dried bloodspots by flow injection electrospray ionization tandem mass spectrometry.

Johnson DW, Gerace R, Ranieri E, Trinh MU, Fingerhut R.

Rapid Commun Mass Spectrom · journal article · DOI 10.1002/rcm.2806

Bibliografisk träff 2006-01-31

Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I.

Magera MJ, Gunawardena ND, Hahn SH, Tortorelli S, Mitchell GA, Goodman SI, Rinaldo P, Matern D.

Mol Genet Metab · journal article · DOI 10.1016/j.ymgme.2005.12.005

Bibliografisk träff 2006-01-18

A GC/MS validated method for the nanomolar range determination of succinylacetone in amniotic fluid and plasma: an analytical tool for tyrosinemia type I.

Cyr D, Giguère R, Villain G, Lemieux B, Drouin R.

J Chromatogr B Analyt Technol Biomed Life Sci · research support, non-u.s. gov't; validation study; journal article · DOI 10.1016/j.jchromb.2005.12.007

Bibliografisk träff 2002-07-01

Maleylacetoacetate isomerase (MAAI/GSTZ)-deficient mice reveal a glutathione-dependent nonenzymatic bypass in tyrosine catabolism.

Fernández-Cañón JM, Baetscher MW, Finegold M, Burlingame T, Gibson KM, Grompe M.

Mol Cell Biol · research support, u.s. gov't, p.h.s.; research support, non-u.s. gov't; research-article; journal article · DOI 10.1128/mcb.22.13.4943-4951.2002

Bibliografisk träff 1999-01-01

Genotyping of a case of tyrosinaemia type I with normal level of succinylacetone in amniotic fluid.

Poudrier J, Lettre F, St-Louis M, Tanguay RM.

Prenat Diagn · research support, non-u.s. gov't; journal article; case reports · DOI 10.1002/(sici)1097-0223(199901)19:1<61::aid-pd455>3.0.co;2-#

Bibliografisk träff 1987-11-01

Immunosuppression by succinylacetone. II. Prevention of graft-vs-host disease.

Hess RA, Tschudy DP, Blaese RM.

J Immunol · journal article · DOI 10.4049/jimmunol.139.9.2845