Duno M - Search Results

1

Skeletal phenotypes in adult patients with osteogenesis imperfecta-correlations with COL1A1/COL1A2 genotype and collagen structure.

Hald JD, Folkestad L, Harsløf T, Lund AM, Duno M, Jensen JB, Neghabat S, Brixen K, Langdahl B. Hald JD, et al. Among authors: duno m. Osteoporos Int. 2016 Nov;27(11):3331-3341. doi: 10.1007/s00198-016-3653-0. Epub 2016 Jun 2. Osteoporos Int. 2016. PMID: 27256333

2

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

3

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

4

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.

5

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

6

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

7

Mild Lesch-Nyhan Disease in a Boy with a Null Mutation in HPRT1: An Exception to the Known Genotype-Phenotype Correlation.

Bayat A, Christensen M, Wibrand F, Duno M, Lund A. Bayat A, et al. Among authors: duno m. JIMD Rep. 2015;18:135-7. doi: 10.1007/8904_2014_368. Epub 2014 Nov 4. JIMD Rep. 2015. PMID: 25366392 Free PMC article.

8

Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency.

Aksglaede L, Christensen M, Olesen JH, Duno M, Olsen RK, Andresen BS, Hougaard DM, Lund AM. Aksglaede L, et al. Among authors: duno m. JIMD Rep. 2015;23:67-70. doi: 10.1007/8904_2015_428. Epub 2015 Mar 13. JIMD Rep. 2015. PMID: 25763512 Free PMC article.

9

Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A2.

Frederiksen AL, Duno M, Johnsen IB, Nielsen MF, Krøigård AB. Frederiksen AL, et al. Among authors: duno m. Clin Case Rep. 2016 Aug 31;4(10):972-978. doi: 10.1002/ccr3.658. eCollection 2016 Oct. Clin Case Rep. 2016. PMID: 27761249 Free PMC article.

10

Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency.

Rasmussen J, Lund AM, Risom L, Wibrand F, Gislason H, Nielsen OW, Køber L, Duno M. Rasmussen J, et al. Among authors: duno m. Mol Genet Metab Rep. 2014 May 22;1:241-248. doi: 10.1016/j.ymgmr.2014.04.008. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896095 Free PMC article.

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