Herebian D - Search Results

1

Highly Elevated Plasma γ-Glutamyltransferase Elevations: A Trait Caused by γ-Glutamyltransferase 1 Transmembrane Mutations.

De Grandi A, Franzini M, Rosipal Š, Rosipal R, Debreova M, Corti A, Ruetzler-Dichtl E, Scholl-Bürgi S, Paolicchi A, Pompella A, Emdin M, Zampa G, Witt H, Zoller H, Tilg H, Mayatepek E, Herebian D, Pramstaller PP, Müller T, Janecke AR. De Grandi A, et al. Among authors: herebian d. Hepatology. 2020 Mar;71(3):1124-1127. doi: 10.1002/hep.30944. Epub 2019 Oct 28. Hepatology. 2020. PMID: 31520399 Free PMC article. No abstract available.

2

Liquid chromatography tandem mass spectrometry method for the quantitation of NTBC (2-(nitro-4-trifluoromethylbenzoyl)1,3-cyclohexanedione) in plasma of tyrosinemia type 1 patients.

Herebian D, Spiekerkötter U, Lamshöft M, Thimm E, Laryea M, Mayatepek E. Herebian D, et al. J Chromatogr B Analyt Technol Biomed Life Sci. 2009 May 15;877(14-15):1453-9. doi: 10.1016/j.jchromb.2009.03.014. Epub 2009 Mar 17. J Chromatogr B Analyt Technol Biomed Life Sci. 2009. PMID: 19345648

3

A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns.

ter Veld F, Mueller M, Kramer S, Haussmann U, Herebian D, Mayatepek E, Laryea MD, Primassin S, Spiekerkoetter U. ter Veld F, et al. Among authors: herebian d. PLoS One. 2009 Jul 30;4(7):e6449. doi: 10.1371/journal.pone.0006449. PLoS One. 2009. PMID: 19649258 Free PMC article.

4

Identification of NTBC metabolites in urine from patients with hereditary tyrosinemia type 1 using two different mass spectrometric platforms: triple stage quadrupole and LTQ-Orbitrap.

Herebian D, Lamshöft M, Mayatepek E, Spiekerkoetter U. Herebian D, et al. Rapid Commun Mass Spectrom. 2010 Mar;24(6):791-800. doi: 10.1002/rcm.4451. Rapid Commun Mass Spectrom. 2010. PMID: 20187082

5

Simultaneous LC-MS/MS determination of phenylbutyrate, phenylacetate benzoate and their corresponding metabolites phenylacetylglutamine and hippurate in blood and urine.

Laryea MD, Herebian D, Meissner T, Mayatepek E. Laryea MD, et al. Among authors: herebian d. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S321-8. doi: 10.1007/s10545-010-9172-9. Epub 2010 Aug 7. J Inherit Metab Dis. 2010. PMID: 20694517

6

Increase of CSF tyrosine and impaired serotonin turnover in tyrosinemia type I.

Thimm E, Herebian D, Assmann B, Klee D, Mayatepek E, Spiekerkoetter U. Thimm E, et al. Among authors: herebian d. Mol Genet Metab. 2011 Feb;102(2):122-5. doi: 10.1016/j.ymgme.2010.11.003. Epub 2010 Nov 10. Mol Genet Metab. 2011. PMID: 21112803

7

A novel mutation within a transmembrane helix of the bile salt export pump (BSEP, ABCB11) with delayed development of cirrhosis.

Stindt J, Ellinger P, Weissenberger K, Dröge C, Herebian D, Mayatepek E, Homey B, Braun S, Schulte am Esch J, Horacek M, Canbay A, Schmitt L, Häussinger D, Kubitz R. Stindt J, et al. Among authors: herebian d. Liver Int. 2013 Nov;33(10):1527-35. doi: 10.1111/liv.12217. Epub 2013 Jun 12. Liver Int. 2013. PMID: 23758865

8

Conjugated bilirubin triggers anemia by inducing erythrocyte death.

Lang E, Gatidis S, Freise NF, Bock H, Kubitz R, Lauermann C, Orth HM, Klindt C, Schuier M, Keitel V, Reich M, Liu G, Schmidt S, Xu HC, Qadri SM, Herebian D, Pandyra AA, Mayatepek E, Gulbins E, Lang F, Häussinger D, Lang KS, Föller M, Lang PA. Lang E, et al. Among authors: herebian d. Hepatology. 2015 Jan;61(1):275-84. doi: 10.1002/hep.27338. Epub 2014 Nov 24. Hepatology. 2015. PMID: 25065608 Free PMC article.

9

Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9.

Danhauser K, Herebian D, Haack TB, Rodenburg RJ, Strom TM, Meitinger T, Klee D, Mayatepek E, Prokisch H, Distelmaier F. Danhauser K, et al. Among authors: herebian d. Eur J Hum Genet. 2016 Mar;24(3):450-4. doi: 10.1038/ejhg.2015.133. Epub 2015 Jun 17. Eur J Hum Genet. 2016. PMID: 26081641 Free PMC article.

10

Caenorhabditis elegans ATAD-3 modulates mitochondrial iron and heme homeostasis.

van den Ecker D, Hoffmann M, Müting G, Maglioni S, Herebian D, Mayatepek E, Ventura N, Distelmaier F. van den Ecker D, et al. Among authors: herebian d. Biochem Biophys Res Commun. 2015 Nov 13;467(2):389-94. doi: 10.1016/j.bbrc.2015.09.143. Epub 2015 Sep 30. Biochem Biophys Res Commun. 2015. PMID: 26427876

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