Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Flemming Wibrand"'
Autor:
Jonas Jalili Pedersen, Morten Duno, Flemming Wibrand, Christian Hammer, Thomas Krag, John Vissing
Publikováno v:
JIMD Reports, Vol 63, Iss 6, Pp 540-545 (2022)
Abstract Deficiency of the enzyme β‐galactosidase due to variants in the GLB1‐gene is associated with metabolic disorders: Morquio B and GM1‐gangliosidosis. Here, we report a case compound heterozygous for variants in the GLB1‐gene and a sev
Externí odkaz:
https://doaj.org/article/30099a06efa94e3a9c4050207216895a
Autor:
Grigoris Effraimidis, Åse Krogh Rasmussen, Morten Dunoe, Lis F Hasholt, Flemming Wibrand, Soren S Sorensen, Allan M Lund, Lars Kober, Henning Bundgaard, Puriya D W Yazdanfard, Peter Oturai, Vibeke A Larsen, Victor Hugo Fraga de Abreu, Lotte Hahn Enevoldsen, Tatiana Kristensen, Kirsten Svenstrup, Margrethe Bastholm Bille, Farah Arif, Mette Mogensen, Mads Klokker, Vibeke Backer, Caroline Kistorp, Ulla Feldt-Rasmussen
Publikováno v:
PLoS ONE, Vol 18, Iss 6, p e0287268 (2023)
[This corrects the article DOI: 10.1371/journal.pone.0277767.].
Externí odkaz:
https://doaj.org/article/8883cb76a9684b67b23e0587339173dc
Autor:
Grigoris Effraimidis, Åse Krogh Rasmussen, Morten Dunoe, Lis F Hasholt, Flemming Wibrand, Soren S Sorensen, Allan M Lund, Lars Kober, Henning Bundgaard, Puriya D W Yazdanfard, Peter Oturai, Vibeke A Larsen, Vitor Hugo Fraga de Abreu, Lotte Hahn Enevoldsen, Tatiana Kristensen, Kirsten Svenstrup, Margrethe Bastholm Bille, Farah Arif, Mette Mogensen, Mads Klokker, Vibeke Backer, Caroline Kistorp, Ulla Feldt-Rasmussen
Publikováno v:
PLoS ONE, Vol 17, Iss 11, p e0277767 (2022)
The lysosomal storage disorder Fabry disease is caused by deficient or absent activity of the GLA gene enzyme α-galactosidase A. In the present study we present the molecular and biochemical data of the Danish Fabry cohort and report 20 years' (2001
Externí odkaz:
https://doaj.org/article/46f76d69a186404e998ffcca330b395a
Autor:
Patrick Soldath, Karen Lindhardt Madsen, Astrid Emilie Buch, Morten Duno, Flemming Wibrand, John Vissing
Publikováno v:
BMC Musculoskeletal Disorders, Vol 18, Iss 1, Pp 1-6 (2017)
Abstract Background Pure exercise intolerance associated with exclusive affection of skeletal muscle is a very rare phenotype of patients with mitochondrial myopathy. Moreover, the exercise intolerance in these rare patients is yet not well explored,
Externí odkaz:
https://doaj.org/article/5a9719090458429b8b7f2249b4ea03b0
Autor:
Allan Meldgaard Lund, Flemming Wibrand, Kristin Skogstrand, Marie Bækvad-Hansen, Niels Gregersen, Brage Storstein Andresen, David M. Hougaard, Morten Dunø, Rikke Katrine Jentoft Olsen
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 3, p 50 (2021)
Historically, the analyses used for newborn screening (NBS) were biochemical, but increasingly, molecular genetic analyses are being introduced in the workflow. We describe the application of molecular genetic analyses in the Danish NBS programme and
Externí odkaz:
https://doaj.org/article/e2d3d02166b1482183928729f9ccf7df
Autor:
Kirstine Ravn, Bitten Schönewolf-Greulich, Rikke M. Hansen, Anna-Helene Bohr, Morten Duno, Flemming Wibrand, Elsebet Ostergaard
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 3, Iss C, Pp 5-10 (2015)
Disorders caused by defects in the mitochondrial translation system are clinically and genetically heterogeneous. The elongation phase of mitochondrial protein synthesis requires, among many other components, three nuclear-encoded elongation factors:
Externí odkaz:
https://doaj.org/article/9cd2521ff6734ef0bbb8926c6affe40f
Autor:
Emelie Curovic Rotbain, Dennis Lund Hansen, Ove Schaffalitzky de Muckadell, Flemming Wibrand, Allan Meldgaard Lund, Henrik Frederiksen
Publikováno v:
PLoS ONE, Vol 12, Iss 11, p e0186674 (2017)
Our aim was to assess the validity of the ICD-10 code for splenomegaly in the Danish National Registry of Patients (DNRP), as well as to investigate which underlying diseases explained the observed splenomegaly.Splenomegaly is a common finding in pat
Externí odkaz:
https://doaj.org/article/f6e6fceefc3744e6bc64a293f4114b42
Autor:
Jan Rasmussen, Allan M. Lund, Lotte Risom, Flemming Wibrand, Hannes Gislason, Olav W. Nielsen, Lars Køber, Morten Duno
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 241-248 (2014)
Background: The prevalence of primary carnitine deficiency (PCD) in the Faroe Islands is the highest reported in the world (1:300). Serious symptoms related to PCD, e.g. sudden death, have previously only been associated to the c.95A > G/c.95A > G ge
Externí odkaz:
https://doaj.org/article/941f6e69d60f4779a296692eeddb5c80
Autor:
Andreas M. Fritzen, Frank B. Thøgersen, Kasper Thybo, Christoffer R. Vissing, Thomas O. Krag, Cristina Ruiz-Ruiz, Lotte Risom, Flemming Wibrand, Louise D. Høeg, Bente Kiens, Morten Duno, John Vissing, Tina D. Jeppesen
Publikováno v:
Cells, Vol 8, Iss 3, p 237 (2019)
Mitochondrial DNA (mtDNA) replication is thought to be an integral part of exercise-training-induced mitochondrial adaptations. Thus, mtDNA level is often used as an index of mitochondrial adaptations in training studies. We investigated the hypothes
Externí odkaz:
https://doaj.org/article/029d1c93ec974663b18904dbf9b529d9
Autor:
Elsebet Ostergaard, Flemming J. Hansen, Nicolina Sorensen, Morten Duno, John Vissing, Pernille L. Larsen, Oddmar Faeroe, Sigurdur Thorgrimsson, Flemming Wibrand, Ernst Christensen, Marianne Schwartz
Publikováno v:
Brain: A Journal of Neurology; Mar2007, Vol. 130 Issue 3, p853-861, 9p