Zobrazeno 1 - 10
of 122
pro vyhledávání: '"Elsebet Ostergaard"'
Autor:
Maria Parasyri, Per Brandström, Johanna Uusimaa, Elsebet Ostergaard, Omar Hikmat, Pirjo Isohanni, Karin Naess, I.F.M. de Coo, Andrés Nascimento Osorio, Matti Nuutinen, Christopher Lindberg, Laurence A. Bindoff, Már Tulinius, Niklas Darin, Kalliopi Sofou
Publikováno v:
Kidney Diseases, Vol 8, Iss 2, Pp 137-148 (2022)
Aims: This study aimed to investigate associations between renal and extrarenal manifestations of mitochondrial diseases and their natural history as well as predictors of renal disease severity and overall disease outcome. The secondary aim was to g
Externí odkaz:
https://doaj.org/article/3ee2e812910448329c59438092ef3013
Publikováno v:
JIMD Reports, Vol 59, Iss 1, Pp 10-15 (2021)
Abstract Hypophosphatasia (HPP) is a rare inherited metabolic disorder characterized by deficient activity of alkaline phosphatase, causing defective mineralization of bones and teeth. The symptoms vary from no symptoms to stillbirth or skeletal mani
Externí odkaz:
https://doaj.org/article/31070a4fa3a24d09ab5ad48e0225c9e3
Autor:
Omar Hikmat, Karin Naess, Martin Engvall, Claus Klingenberg, Magnhild Rasmussen, Chantal M. E. Tallaksen, Christian Samsonsen, Eylert Brodtkorb, Elsebet Ostergaard, Rene de Coo, Leticia Pias‐Peleteiro, Pirjo Isohanni, Johanna Uusimaa, Niklas Darin, Shamima Rahman, Laurence A. Bindoff
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 10, Pp 2019-2025 (2020)
Abstract Objective To study the impact of gender, puberty, and pregnancy on the expression of POLG disease, one of the most common mitochondrial diseases known. Methods Clinical, laboratory, and genetic data were collected retrospectively from 155 pa
Externí odkaz:
https://doaj.org/article/e138e62d2745491f9053735c2db70e67
Autor:
Emanuele G. Coci, Ornella Galesi, Thomas Morgan, Sabrina Giglio, Elsebet Ostergaard, Maurizio Elia
Publikováno v:
Cytogenetic and Genome Research. :1-7
Neurodevelopmental syndromes due to copy number variation are well-known clinical entities. While the numerical variation of gene-harboring regions has been widely investigated at both molecular and clinical levels, much less is understood about unba
Autor:
Birgit M. Repp, Elisa Mastantuono, Charlotte L. Alston, Manuel Schiff, Tobias B. Haack, Agnes Rötig, Anna Ardissone, Anne Lombès, Claudia B. Catarino, Daria Diodato, Gudrun Schottmann, Joanna Poulton, Alberto Burlina, An Jonckheere, Arnold Munnich, Boris Rolinski, Daniele Ghezzi, Dariusz Rokicki, Diana Wellesley, Diego Martinelli, Ding Wenhong, Eleonora Lamantea, Elsebet Ostergaard, Ewa Pronicka, Germaine Pierre, Hubert J. M. Smeets, Ilka Wittig, Ingrid Scurr, Irenaeus F. M. de Coo, Isabella Moroni, Joél Smet, Johannes A. Mayr, Lifang Dai, Linda de Meirleir, Markus Schuelke, Massimo Zeviani, Raphael J. Morscher, Robert McFarland, Sara Seneca, Thomas Klopstock, Thomas Meitinger, Thomas Wieland, Tim M. Strom, Ulrike Herberg, Uwe Ahting, Wolfgang Sperl, Marie-Cecile Nassogne, Han Ling, Fang Fang, Peter Freisinger, Rudy Van Coster, Valentina Strecker, Robert W. Taylor, Johannes Häberle, Jerry Vockley, Holger Prokisch, Saskia Wortmann
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)
Abstract Background Mitochondrial acyl-CoA dehydrogenase family member 9 (ACAD9) is essential for the assembly of mitochondrial respiratory chain complex I. Disease causing biallelic variants in ACAD9 have been reported in individuals presenting with
Externí odkaz:
https://doaj.org/article/129e2104cafd486f9cf68aead98de16c
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
Publikováno v:
JIMD Reports, Vol 59, Iss 1, Pp 20-25 (2021)
Alstrup, M, Vogel, I, Sandager, P, Blechingberg, J, Becher, N & Østergaard, E 2021, ' A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses ', JIMD Reports, vol. 59, no. 1, pp. 20-25 . https://doi.org/10.1002/jmd2.12209
JIMD Reports
Alstrup, M, Vogel, I, Sandager, P, Blechingberg, J, Becher, N & Østergaard, E 2021, ' A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses ', JIMD Reports, vol. 59, no. 1, pp. 20-25 . https://doi.org/10.1002/jmd2.12209
JIMD Reports
The C1QBP protein (complement component 1 Q subcomponent‐binding protein), encoded by the C1QBP gene, is a multifunctional protein predominantly localized in the mitochondrial matrix. Biallelic variants have previously been shown to give rise to co
Publikováno v:
JIMD Reports
Strandbech, O S, Lund, A & Ostergaard, E 2021, ' Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia ', JIMD Reports, vol. 59, no. 1, pp. 10-15 . https://doi.org/10.1002/jmd2.12198
JIMD Reports, Vol 59, Iss 1, Pp 10-15 (2021)
Strandbech, O S, Lund, A & Ostergaard, E 2021, ' Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia ', JIMD Reports, vol. 59, no. 1, pp. 10-15 . https://doi.org/10.1002/jmd2.12198
JIMD Reports, Vol 59, Iss 1, Pp 10-15 (2021)
Hypophosphatasia (HPP) is a rare inherited metabolic disorder characterized by deficient activity of alkaline phosphatase, causing defective mineralization of bones and teeth. The symptoms vary from no symptoms to stillbirth or skeletal manifestation
Autor:
Karin Naess, Shamima Rahman, Elsebet Ostergaard, Martin Engvall, Johanna Uusimaa, Claus Klingenberg, Laurence A. Bindoff, Niklas Darin, Chantal M. E. Tallaksen, Leticia Pias-Peleteiro, René I. de Coo, Christian Samsonsen, Magnhild Rasmussen, Eylert Brodtkorb, Omar Hikmat, Pirjo Isohanni
Publikováno v:
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, 7(10), 2019-2025. Wiley
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Hikmat, O, Naess, K, Engvall, M, Klingenberg, C, Rasmussen, M, Tallaksen, C M E, Samsonsen, C, Brodtkorb, E, Ostergaard, E, de Coo, R, Pias-Peleteiro, L, Isohanni, P, Uusimaa, J, Darin, N, Rahman, S & Bindoff, L A 2020, ' The impact of gender, puberty, and pregnancy in patients with POLG disease ', Annals of Clinical and Translational Neurology, vol. 7, no. 10, pp. 2019-2025 . https://doi.org/10.1002/acn3.51199
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Annals of Clinical and Translational Neurology, Vol 7, Iss 10, Pp 2019-2025 (2020)
Annals of clinical and translational neurology
Annals of Clinical and Translational Neurology, 7(10), 2019-2025. Wiley
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Hikmat, O, Naess, K, Engvall, M, Klingenberg, C, Rasmussen, M, Tallaksen, C M E, Samsonsen, C, Brodtkorb, E, Ostergaard, E, de Coo, R, Pias-Peleteiro, L, Isohanni, P, Uusimaa, J, Darin, N, Rahman, S & Bindoff, L A 2020, ' The impact of gender, puberty, and pregnancy in patients with POLG disease ', Annals of Clinical and Translational Neurology, vol. 7, no. 10, pp. 2019-2025 . https://doi.org/10.1002/acn3.51199
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Annals of Clinical and Translational Neurology, Vol 7, Iss 10, Pp 2019-2025 (2020)
Annals of clinical and translational neurology
Objective To study the impact of gender, puberty, and pregnancy on the expression of POLG disease, one of the most common mitochondrial diseases known. Methods Clinical, laboratory, and genetic data were collected retrospectively from 155 patients wi
Publikováno v:
Mitochondrion. 53:255-259
Mitochondrial disorders are one of the most common inherited metabolic disorders and are caused by variants in nuclear genes or the mitochondrial genome. Additionally, there is a large group of patients displaying clinical symptoms, where the genetic