Publications by authors named "Rikke K J Olsen"

20Publications

FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.

Mol Genet Genomic Med 2019 09 8;7(9):e915. Epub 2019 Aug 8.

Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.915
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http://dx.doi.org/10.1002/mgg3.915DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732309PMC
September 2019

FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts.

Clin Genet 2018 12;94(6):592-593

Secció Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic de Barcelona, IDIBAPS, Barcelona, Spain.

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http://doi.wiley.com/10.1111/cge.13452
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http://dx.doi.org/10.1111/cge.13452DOI Listing
December 2018

Redox signalling and mitochondrial stress responses; lessons from inborn errors of metabolism.

J Inherit Metab Dis 2015 Jul 30;38(4):703-19. Epub 2015 May 30.

Research Unit for Molecular Medicine, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, 8200, Aarhus N, Denmark,

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http://dx.doi.org/10.1007/s10545-015-9861-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4493798PMC
July 2015

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

JIMD Rep 2015 13;23:67-70. Epub 2015 Mar 13.

Centre for Inherited Metabolic Diseases, Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark,

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http://dx.doi.org/10.1007/8904_2015_428DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4484903PMC
June 2015

Cellular consequences of oxidative stress in riboflavin responsive multiple acyl-CoA dehydrogenation deficiency patient fibroblasts.

Hum Mol Genet 2014 Aug 3;23(16):4285-301. Epub 2014 Apr 3.

Research Unit for Molecular Medicine, Aarhus University Hospital and Department of Clinical Medicine, Aarhus University, Brendstrupgaardsvej 100, Aarhus 8200, Denmark and

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http://dx.doi.org/10.1093/hmg/ddu146DOI Listing
August 2014

Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency.

Mol Genet Metab 2014 Mar 24;111(3):360-368. Epub 2014 Jan 24.

Research Unit for Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.01.007DOI Listing
March 2014

The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency.

Hum Mutat 2014 Jan 28;35(1):86-95. Epub 2013 Oct 28.

Research Unit for Molecular Medicine, Aarhus University Hospital and Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.

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http://dx.doi.org/10.1002/humu.22455DOI Listing
January 2014

Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency.

Hum Mol Genet 2012 Aug 18;21(15):3435-48. Epub 2012 May 18.

The Research Unit for Molecular Medicine, Aarhus University Hospital and Department of Clinical Medicine, Aarhus University, Denmark.

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/dds175DOI Listing
August 2012

Disease mechanisms and protein structures in fatty acid oxidation defects.

J Inherit Metab Dis 2010 Oct 12;33(5):547-53. Epub 2010 Feb 12.

Institute of Clinical Medicine, The Faculty of Health Sciences, Aarhus University and Aarhus University Hospital, Skejby, Aarhus, Denmark.

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http://link.springer.com/10.1007/s10545-010-9046-1
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http://dx.doi.org/10.1007/s10545-010-9046-1DOI Listing
October 2010

Mitochondrial fatty acid oxidation defects--remaining challenges.

J Inherit Metab Dis 2008 Oct 7;31(5):643-57. Epub 2008 Oct 7.

Research Unit for Molecular Medicine, Institute of Clinical Medicine, The Faculty of Health Sciences, Aarhus University, Aarhus N, Denmark.

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http://link.springer.com/10.1007/s10545-008-0990-y
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http://dx.doi.org/10.1007/s10545-008-0990-yDOI Listing
October 2008

Electron transfer flavoprotein deficiency: functional and molecular aspects.

Mol Genet Metab 2006 Jun 28;88(2):153-8. Epub 2006 Feb 28.

Centre de Référence Maladies Héréditaires du Métabolisme, Service de Biochimie Pédiatrique, Hôpital Debrousse, Lyon, France.

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http://dx.doi.org/10.1016/j.ymgme.2006.01.009DOI Listing
June 2006

DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency.

Prenat Diagn 2005 Jan;25(1):60-4

Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Sciences, Skejby Sygehus, Aarhus, Denmark.

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http://dx.doi.org/10.1002/pd.983DOI Listing
January 2005

Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.

Hum Mutat 2003 Jul;22(1):12-23

Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Sciences, Skejby Sygehus, Aarhus, Denmark.

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http://doi.wiley.com/10.1002/humu.10226
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http://dx.doi.org/10.1002/humu.10226DOI Listing
July 2003