Marquardt T - Search Results

1

Taday R, Park JH, Grüneberg M, DuChesne I, Reunert J, Marquardt T. Taday R, et al. Among authors: marquardt t. Orphanet J Rare Dis. 2021 Aug 11;16(1):359. doi: 10.1186/s13023-021-01988-x. Orphanet J Rare Dis. 2021. PMID: 34380532 Free PMC article.

2

Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih.

Stölting T, Omran H, Erlekotte A, Denecke J, Reunert J, Marquardt T. Stölting T, et al. Among authors: marquardt t. Mol Genet Metab. 2009 Nov;98(3):305-9. doi: 10.1016/j.ymgme.2009.06.010. Epub 2009 Jun 24. Mol Genet Metab. 2009. PMID: 19648040

3

Life with too much polyprenol: polyprenol reductase deficiency.

Gründahl JE, Guan Z, Rust S, Reunert J, Müller B, Du Chesne I, Zerres K, Rudnik-Schöneborn S, Ortiz-Brüchle N, Häusler MG, Siedlecka J, Swiezewska E, Raetz CR, Marquardt T. Gründahl JE, et al. Among authors: marquardt t. Mol Genet Metab. 2012 Apr;105(4):642-51. doi: 10.1016/j.ymgme.2011.12.017. Epub 2011 Dec 29. Mol Genet Metab. 2012. PMID: 22304929 Free PMC article.

4

Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease.

Würde AE, Reunert J, Rust S, Hertzberg C, Haverkämper S, Nürnberg G, Nürnberg P, Lehle L, Rossi R, Marquardt T. Würde AE, et al. Among authors: marquardt t. Mol Genet Metab. 2012 Apr;105(4):634-41. doi: 10.1016/j.ymgme.2012.01.001. Epub 2012 Jan 9. Mol Genet Metab. 2012. PMID: 22304930

5

Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn.

Reunert J, Wentzell R, Walter M, Jakubiczka S, Zenker M, Brune T, Rust S, Marquardt T. Reunert J, et al. Among authors: marquardt t. Eur J Hum Genet. 2012 Sep;20(9):933-7. doi: 10.1038/ejhg.2012.36. Epub 2012 Mar 14. Eur J Hum Genet. 2012. PMID: 22419169 Free PMC article.

6

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.

Koehler K, Malik M, Mahmood S, Gießelmann S, Beetz C, Hennings JC, Huebner AK, Grahn A, Reunert J, Nürnberg G, Thiele H, Altmüller J, Nürnberg P, Mumtaz R, Babovic-Vuksanovic D, Basel-Vanagaite L, Borck G, Brämswig J, Mühlenberg R, Sarda P, Sikiric A, Anyane-Yeboa K, Zeharia A, Ahmad A, Coubes C, Wada Y, Marquardt T, Vanderschaeghe D, Van Schaftingen E, Kurth I, Huebner A, Hübner CA. Koehler K, et al. Among authors: marquardt t. Am J Hum Genet. 2013 Oct 3;93(4):727-34. doi: 10.1016/j.ajhg.2013.08.002. Epub 2013 Sep 12. Am J Hum Genet. 2013. PMID: 24035193 Free PMC article.

7

ALG1-CDG: a new case with early fatal outcome.

Rohlfing AK, Rust S, Reunert J, Tirre M, Du Chesne I, Wemhoff S, Meinhardt F, Hartmann H, Das AM, Marquardt T. Rohlfing AK, et al. Among authors: marquardt t. Gene. 2014 Jan 25;534(2):345-51. doi: 10.1016/j.gene.2013.10.013. Epub 2013 Oct 21. Gene. 2014. PMID: 24157261

8

The novel transferrin E592A variant impairs the diagnostics of congenital disorders of glycosylation.

Park JH, Zühlsdorf A, Wada Y, Roll C, Rust S, Du Chesne I, Grüneberg M, Reunert J, Marquardt T. Park JH, et al. Among authors: marquardt t. Clin Chim Acta. 2014 Sep 25;436:135-9. doi: 10.1016/j.cca.2014.05.011. Epub 2014 May 26. Clin Chim Acta. 2014. PMID: 24875750

9

Transferrin variants: pitfalls in the diagnostics of Congenital disorders of glycosylation.

Zühlsdorf A, Park JH, Wada Y, Rust S, Reunert J, DuChesne I, Grüneberg M, Marquardt T. Zühlsdorf A, et al. Among authors: marquardt t. Clin Biochem. 2015 Jan;48(1-2):11-3. doi: 10.1016/j.clinbiochem.2014.09.022. Epub 2014 Oct 8. Clin Biochem. 2015. PMID: 25305627

10

Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study.

Welford RW, Garzotti M, Marques Lourenço C, Mengel E, Marquardt T, Reunert J, Amraoui Y, Kolb SA, Morand O, Groenen P. Welford RW, et al. Among authors: marquardt t. PLoS One. 2014 Dec 5;9(12):e114669. doi: 10.1371/journal.pone.0114669. eCollection 2014. PLoS One. 2014. PMID: 25479233 Free PMC article.

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