Herebian D - Search Results

1

Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.

Laugwitz L, Seibt A, Herebian D, Peralta S, Kienzle I, Buchert R, Falb R, Gauck D, Müller A, Grimmel M, Beck-Woedel S, Kern J, Daliri K, Katibeh P, Danhauser K, Leiz S, Alesi V, Baertling F, Vasco G, Steinfeld R, Wagner M, Caglayan AO, Gumus H, Burmeister M, Mayatepek E, Martinelli D, Tamhankar PM, Tamhankar V, Joset P, Steindl K, Rauch A, Bonnen PE, Froukh T, Groeschel S, Krägeloh-Mann I, Haack TB, Distelmaier F. Laugwitz L, et al. Among authors: herebian d. J Med Genet. 2022 Sep;59(9):878-887. doi: 10.1136/jmedgenet-2021-107729. Epub 2021 Oct 16. J Med Genet. 2022. PMID: 34656997 Free PMC article.

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

Pre-exercise medium-chain triglyceride application prevents acylcarnitine accumulation in skeletal muscle from very-long-chain acyl-CoA-dehydrogenase-deficient mice.

Primassin S, Tucci S, Herebian D, Seibt A, Hoffmann L, ter Veld F, Spiekerkoetter U. Primassin S, et al. Among authors: herebian d. J Inherit Metab Dis. 2010 Jun;33(3):237-46. doi: 10.1007/s10545-010-9105-7. Epub 2010 May 6. J Inherit Metab Dis. 2010. PMID: 20446112

6

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

7

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

8

Tissue-specific strategies of the very-long chain acyl-CoA dehydrogenase-deficient (VLCAD-/-) mouse to compensate a defective fatty acid β-oxidation.

Tucci S, Herebian D, Sturm M, Seibt A, Spiekerkoetter U. Tucci S, et al. Among authors: herebian d. PLoS One. 2012;7(9):e45429. doi: 10.1371/journal.pone.0045429. Epub 2012 Sep 14. PLoS One. 2012. PMID: 23024820 Free PMC article.

9

Monounsaturated 14:1n-9 and 16:1n-9 fatty acids but not 18:1n-9 induce apoptosis and necrosis in murine HL-1 cardiomyocytes.

Hoffmann L, Seibt A, Herebian D, Spiekerkoetter U. Hoffmann L, et al. Among authors: herebian d. Lipids. 2014 Jan;49(1):25-37. doi: 10.1007/s11745-013-3865-4. Epub 2013 Nov 27. Lipids. 2014. PMID: 24281896

10

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.

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