Denecke J - Search Results

1

Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins.

Denecke J, Kranz C, von Kleist-Retzow JCh, Bosse K, Herkenrath P, Debus O, Harms E, Marquardt T. Denecke J, et al. Pediatr Res. 2005 Aug;58(2):248-53. doi: 10.1203/01.PDR.0000169963.94378.B6. Epub 2005 Jul 8. Pediatr Res. 2005. PMID: 16006436

2

Characterization of the N-glycosylation phenotype of erythrocyte membrane proteins in congenital dyserythropoietic anemia type II (CDA II/HEMPAS).

Denecke J, Kranz C, Nimtz M, Conradt HS, Brune T, Heimpel H, Marquardt T. Denecke J, et al. Glycoconj J. 2008 May;25(4):375-82. doi: 10.1007/s10719-007-9089-1. Epub 2007 Dec 29. Glycoconj J. 2008. PMID: 18166993

3

An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id).

Denecke J, Kranz C, Kemming D, Koch HG, Marquardt T. Denecke J, et al. Hum Mutat. 2004 May;23(5):477-86. doi: 10.1002/humu.20026. Hum Mutat. 2004. PMID: 15108280

4

Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies.

Marquardt T, Denecke J. Marquardt T, et al. Among authors: denecke j. Eur J Pediatr. 2003 Jun;162(6):359-79. doi: 10.1007/s00431-002-1136-0. Epub 2003 Mar 15. Eur J Pediatr. 2003. PMID: 12756558 Review.

5

Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): where are we now?

Denecke J, Marquardt T. Denecke J, et al. Biochim Biophys Acta. 2009 Sep;1792(9):915-20. doi: 10.1016/j.bbadis.2008.12.005. Epub 2008 Dec 25. Biochim Biophys Acta. 2009. PMID: 19150496 Free article. Review.

6

Hypoglycosylation due to dolichol metabolism defects.

Denecke J, Kranz C. Denecke J, et al. Biochim Biophys Acta. 2009 Sep;1792(9):888-95. doi: 10.1016/j.bbadis.2009.01.013. Epub 2009 Feb 3. Biochim Biophys Acta. 2009. PMID: 19419701 Free article. Review.

7

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: denecke 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

8

Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I.

Kranz C, Denecke J, Lehle L, Sohlbach K, Jeske S, Meinhardt F, Rossi R, Gudowius S, Marquardt T. Kranz C, et al. Among authors: denecke j. Am J Hum Genet. 2004 Mar;74(3):545-51. doi: 10.1086/382493. Epub 2004 Feb 17. Am J Hum Genet. 2004. PMID: 14973782 Free PMC article.

9

Glycoproteomics of N-glycosylation by in-gel deglycosylation and matrix-assisted laser desorption/ionisation-time of flight mass spectrometry mapping: application to congenital disorders of glycosylation.

Sagi D, Kienz P, Denecke J, Marquardt T, Peter-Katalinić J. Sagi D, et al. Among authors: denecke j. Proteomics. 2005 Jul;5(10):2689-701. doi: 10.1002/pmic.200401312. Proteomics. 2005. PMID: 15912511

10

A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If).

Kranz C, Denecke J, Lehrman MA, Ray S, Kienz P, Kreissel G, Sagi D, Peter-Katalinic J, Freeze HH, Schmid T, Jackowski-Dohrmann S, Harms E, Marquardt T. Kranz C, et al. Among authors: denecke j. J Clin Invest. 2001 Dec;108(11):1613-9. doi: 10.1172/JCI13635. J Clin Invest. 2001. PMID: 11733556 Free PMC article.

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