Duno M - Search Results

1

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: duno m. 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

2

Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.

Ørngreen MC, Dunø M, Ejstrup R, Christensen E, Schwartz M, Sacchetti M, Vissing J. Ørngreen MC, et al. Among authors: duno m. Ann Neurol. 2005 Jan;57(1):60-6. doi: 10.1002/ana.20320. Ann Neurol. 2005. PMID: 15622536

3

Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.

Ostergaard E, Hansen FJ, Sorensen N, Duno M, Vissing J, Larsen PL, Faeroe O, Thorgrimsson S, Wibrand F, Christensen E, Schwartz M. Ostergaard E, et al. Among authors: duno m. Brain. 2007 Mar;130(Pt 3):853-61. doi: 10.1093/brain/awl383. Epub 2007 Feb 7. Brain. 2007. PMID: 17287286

4

Preserved fertility in a non-mosaic Klinefelter patient with a mutation in the fibroblast growth factor receptor 3 gene: case report.

Juul A, Aksglaede L, Lund AM, Duno M, Skakkebaek NE, Rajpert-De Meyts E. Juul A, et al. Among authors: duno m. Hum Reprod. 2007 Jul;22(7):1907-11. doi: 10.1093/humrep/dem126. Epub 2007 Jun 6. Hum Reprod. 2007. PMID: 17554105

5

Leukocyte cDNA analysis of NSD1 derived from confirmed Sotos syndrome patients.

Duno M, Skovby F, Schwartz M. Duno M, et al. Ann Hum Genet. 2007 Nov;71(Pt 6):713-8. doi: 10.1111/j.1469-1809.2007.00376.x. Epub 2007 Jun 11. Ann Hum Genet. 2007. PMID: 17561922

6

Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion.

Ostergaard E, Christensen E, Kristensen E, Mogensen B, Duno M, Shoubridge EA, Wibrand F. Ostergaard E, et al. Among authors: duno m. Am J Hum Genet. 2007 Aug;81(2):383-7. doi: 10.1086/519222. Epub 2007 Jun 4. Am J Hum Genet. 2007. PMID: 17668387 Free PMC article.

7

A novel arginine-to-cysteine substitution in the triple helical region of the alpha1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers-Danlos phenotype.

Lund A, Joensen F, Christensen E, Dunø M, Skovby F, Schwartz M. Lund A, et al. Among authors: duno m. Clin Genet. 2008 Jan;73(1):97-101. doi: 10.1111/j.1399-0004.2007.00926.x. Epub 2007 Nov 17. Clin Genet. 2008. PMID: 18028452 No abstract available.

8

Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency.

Ostergaard E, Moller LB, Kalkanoglu-Sivri HS, Dursun A, Kibaek M, Thelle T, Christensen E, Duno M, Wibrand F. Ostergaard E, et al. Among authors: duno m. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S235-9. doi: 10.1007/s10545-009-1179-8. Epub 2009 Jun 11. J Inherit Metab Dis. 2009. PMID: 19517265

9

Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele.

Bross P, Frederiksen JB, Bie AS, Hansen J, Palmfeldt J, Nielsen MN, Duno M, Lund AM, Christensen E. Bross P, et al. Among authors: duno m. J Inherit Metab Dis. 2012 Sep;35(5):787-96. doi: 10.1007/s10545-011-9437-y. Epub 2012 Jan 10. J Inherit Metab Dis. 2012. PMID: 22231382

10

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: duno m. 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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

199 results

Search Page

Filters