Works matching AU Olsen, Rikke K.J.

Results: 7

Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B.

Published in:

Human Mutation, 2011, v. 32, n. 1, p. E1976, doi. 10.1002/humu.21399

By:

Ho, Gladys;
Yonezawa, Atsushi;
Masuda, Satohiro;
Inui, Ken-ichi;
Sim, Keow G.;
Carpenter, Kevin;
Olsen, Rikke K.J.;
Mitchell, John J.;
Rhead, William J.;
Peters, Gregory;
Christodoulou, John

Publication type:

Article

Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl‐CoA dehydrogenation deficiencyCommunicated by Mark H. Paalman.

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 12, doi. 10.1002/humu.10226

By:

Rikke K.J. Olsen;
Brage S. Andresen;
Ernst Christensen;
Peter Bross;
Flemming Skovby;
Niels Gregersen

Publication type:

Article

Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency (Communicated by Mark H. Paalman).

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 12, doi. 10.1002/humu.10226

By:

Rikke K.J. Olsen;
Brage S. Andresen;
Ernst Christensen;
Peter Bross;
Flemming Skovby;
Niels Gregersen

Publication type:

Article

Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship.

Published in:

Human Mutation, 2001, v. 18, n. 3, p. 169, doi. 10.1002/humu.1174

By:

Gregersen, Niels;
Andresen, Brage S.;
Corydon, Morten J.;
Corydon, Thomas J.;
Olsen, Rikke K.J.;
Bolund, Lars;
Bross, Peter

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2014, v. 23, n. 16, p. 4285, doi. 10.1093/hmg/ddu146

By:

Cornelius, Nanna;
Corydon, Thomas J.;
Gregersen, Niels;
Olsen, Rikke K.J.

Publication type:

Article

Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 19, p. 3819, doi. 10.1093/hmg/ddt232

By:

Cornelius, Nanna;
Byron, Colleen;
Hargreaves, Iain;
Guerra, Paula Fernandez;
Furdek, Andrea K.;
Land, John;
Radford, Weston W.;
Frerman, Frank;
Corydon, Thomas J.;
Gregersen, Niels;
Olsen, Rikke K.J.

Publication type:

Article

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

Published in:

2018

By:

García‐Villoria, Judit;
De Azua, Begoña;
Tort, Frederic;
Mosegaard, Signe;
Ugarteburu, Olatz;
Texidó, Laura;
Morales‐Romero, Blai;
Olsen, Rikke K.J.;
Ribes, Antonia

Publication type:

Letter to the Editor