Christensen E - Search Results

1

d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence.

Swanson MA, Garcia SM, Spector E, Kronquist K, Creadon-Swindell G, Walter M, Christensen E, Van Hove JLK, Sass JO. Swanson MA, et al. Among authors: christensen e. Mol Genet Metab. 2017 Jun;121(2):80-82. doi: 10.1016/j.ymgme.2017.04.009. Epub 2017 Apr 20. Mol Genet Metab. 2017. PMID: 28462797

2

D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK).

Sass JO, Fischer K, Wang R, Christensen E, Scholl-Bürgi S, Chang R, Kapelari K, Walter M. Sass JO, et al. Among authors: christensen e. Hum Mutat. 2010 Dec;31(12):1280-5. doi: 10.1002/humu.21375. Epub 2010 Nov 9. Hum Mutat. 2010. PMID: 20949620

3

The molecular basis of aminoacylase 1 deficiency.

Sommer A, Christensen E, Schwenger S, Seul R, Haas D, Olbrich H, Omran H, Sass JO. Sommer A, et al. Among authors: christensen e. Biochim Biophys Acta. 2011 Jun;1812(6):685-90. doi: 10.1016/j.bbadis.2011.03.005. Epub 2011 Mar 23. Biochim Biophys Acta. 2011. PMID: 21414403 Free article.

4

A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.

Shafqat N, Kavanagh KL, Sass JO, Christensen E, Fukao T, Lee WH, Oppermann U, Yue WW. Shafqat N, et al. Among authors: christensen e. J Inherit Metab Dis. 2013 Nov;36(6):983-7. doi: 10.1007/s10545-013-9589-z. Epub 2013 Feb 19. J Inherit Metab Dis. 2013. PMID: 23420214 Free PMC article.

5

The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.

Schwartz M, Christensen E, Superti-Furga A, Brandt NJ. Schwartz M, et al. Among authors: christensen e. Hum Genet. 1998 Apr;102(4):452-8. doi: 10.1007/s004390050720. Hum Genet. 1998. PMID: 9600243

6

Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).

Keyser B, Mühlhausen C, Dickmanns A, Christensen E, Muschol N, Ullrich K, Braulke T. Keyser B, et al. Among authors: christensen e. Hum Mol Genet. 2008 Dec 15;17(24):3854-63. doi: 10.1093/hmg/ddn284. Epub 2008 Sep 5. Hum Mol Genet. 2008. PMID: 18775954

7

3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings.

Kleta R, Skovby F, Christensen E, Rosenberg T, Gahl WA, Anikster Y. Kleta R, et al. Among authors: christensen e. Mol Genet Metab. 2002 Jul;76(3):201-6. doi: 10.1016/s1096-7192(02)00047-1. Mol Genet Metab. 2002. PMID: 12126933

8

Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening.

Lund AM, Hougaard DM, Simonsen H, Andresen BS, Christensen M, Dunø M, Skogstrand K, Olsen RK, Jensen UG, Cohen A, Larsen N, Saugmann-Jensen P, Gregersen N, Brandt NJ, Christensen E, Skovby F, Nørgaard-Pedersen B. Lund AM, et al. Among authors: christensen m, christensen e. Mol Genet Metab. 2012 Nov;107(3):281-93. doi: 10.1016/j.ymgme.2012.06.006. Epub 2012 Jun 21. Mol Genet Metab. 2012. PMID: 22795865

9

Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase.

Christensen M, Duno M, Lund AM, Skovby F, Christensen E. Christensen M, et al. Among authors: christensen e. J Inherit Metab Dis. 2007 Apr;30(2):248-55. doi: 10.1007/s10545-007-0396-2. Epub 2007 Mar 1. J Inherit Metab Dis. 2007. PMID: 17334708

10

MCAD deficiency in Denmark.

Andresen BS, Lund AM, Hougaard DM, Christensen E, Gahrn B, Christensen M, Bross P, Vested A, Simonsen H, Skogstrand K, Olpin S, Brandt NJ, Skovby F, Nørgaard-Pedersen B, Gregersen N. Andresen BS, et al. Among authors: christensen m, christensen e. Mol Genet Metab. 2012 Jun;106(2):175-88. doi: 10.1016/j.ymgme.2012.03.018. Epub 2012 Apr 4. Mol Genet Metab. 2012. PMID: 22542437

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