Reunert J - Search Results

1

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: reunert j. PLoS One. 2014 Dec 5;9(12):e114669. doi: 10.1371/journal.pone.0114669. eCollection 2014. PLoS One. 2014. PMID: 25479233 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: reunert j. 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: reunert j. 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: reunert j. 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. 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

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: reunert j. 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

7

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: reunert j. 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

8

Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.

Reunert J, Lotz-Havla AS, Polo G, Kannenberg F, Fobker M, Griese M, Mengel E, Muntau AC, Schnabel P, Sommerburg O, Borggraefe I, Dardis A, Burlina AP, Mall MA, Ciana G, Bembi B, Burlina AB, Marquardt T. Reunert J, et al. JIMD Rep. 2015;23:17-26. doi: 10.1007/8904_2015_423. Epub 2015 Mar 13. JIMD Rep. 2015. PMID: 25772320 Free PMC article.

9

A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach.

Dörre K, Olczak M, Wada Y, Sosicka P, Grüneberg M, Reunert J, Kurlemann G, Fiedler B, Biskup S, Hörtnagel K, Rust S, Marquardt T. Dörre K, et al. Among authors: reunert j. J Inherit Metab Dis. 2015 Sep;38(5):931-40. doi: 10.1007/s10545-015-9828-6. Epub 2015 Mar 17. J Inherit Metab Dis. 2015. PMID: 25778940

10

Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Questions.

Park JH, Weissensteiner M, Wagner O, Wada Y, Rust S, Reunert J, Marquardt T. Park JH, et al. Among authors: reunert j. Pediatr Nephrol. 2016 Aug;31(8):1281. doi: 10.1007/s00467-015-3071-0. Epub 2015 May 7. Pediatr Nephrol. 2016. PMID: 25947087 No abstract available.

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