Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Per Mathisen"'
Autor:
Kristin Ørstavik, Kjell Arne Arntzen, Per Mathisen, Paul Hoff Backe, Trine Tangeraas, Magnhild Rasmussen, Erle Kristensen, Marijke Van Ghelue, Christoffer Jonsrud, Yngve Thomas Bliksrud
Publikováno v:
JIMD Reports, Vol 63, Iss 3, Pp 193-198 (2022)
Abstract Mitochondrial trifunctional protein (MTP) deficiency is an ultrarare hereditary recessive disorder causing a broad spectrum of phenotypes with lethal infantile cardiomyopathy at the most severe end. Attenuated forms with polyneuropathy have
Externí odkaz:
https://doaj.org/article/69e9d0a6cc444bf09dbe51d2f46778ba
Autor:
Hege Kampen Pihlstrøm, Mina Susanne Weedon‐Fekjær, Birgitte Leisner Bjerkely, Charlotte von derLippe, Kristin Ørstavik, Per Mathisen, Ketil Heimdal, Trond Geir Jenssen, Dag Olav Dahle, Olga Karin Solberg, Solrun Sigurdardottir
Publikováno v:
JIMD Reports, Vol 62, Iss 1, Pp 56-69 (2021)
Abstract Health‐related quality of life (HRQOL) is reduced in Fabry disease (FD) and associated with clinical disease manifestations, but few have used Fabry‐specific severity scores to study how disease burden interferes with quality of life. We
Externí odkaz:
https://doaj.org/article/f083ac0f662c49bfbb2568975ffba424
Autor:
Solrun Sigurdardottir, Birgitte Bjerkely, Trond G. Jenssen, Per Mathisen, Charlotte von der Lippe, Kristin Ørstavik, Ketil Heimdal, Dag Olav Dahle, Mina Susanne Weedon-Fekjær, Olga Solberg, Hege K. Pihlstrøm
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
Abstract Background Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by multiorgan dysfunction. Since individuals with FD usually experience progressive clinical disease manifestations, their health-related quality of life (
Externí odkaz:
https://doaj.org/article/6eff872ceb1a471793c5e8897534bfa1
Autor:
Danique van Vliet, Annemiek M. J. van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Nenad Blau, Fatma D. Bulut, Kari Casas, Bozena Didycz, Maja Djordjevic, Antonio Federico, François Feillet, Maria Gizewska, Gwendolyn Gramer, Jozef L. Hertecant, Carla E. M. Hollak, Jens V. Jørgensen, Daniela Karall, Yuval Landau, Vincenzo Leuzzi, Per Mathisen, Kathryn Moseley, Neslihan Ö. Mungan, Francesca Nardecchia, Katrin Õunap, Kimberly K. Powell, Radha Ramachandran, Frank Rutsch, Aria Setoodeh, Maja Stojiljkovic, Fritz K. Trefz, Natalia Usurelu, Callum Wilson, Clara D. van Karnebeek, William B. Hanley, Francjan J. van Spronsen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-6 (2018)
Abstract Background Phenylketonuria (PKU) is often considered as the classical example of a genetic disorder in which severe symptoms can nowadays successfully be prevented by early diagnosis and treatment. In contrast, untreated or late-treated PKU
Externí odkaz:
https://doaj.org/article/fa8d0419b00e4e5aaeec6593e5894762
Autor:
Danique van Vliet, Annemiek M.J. van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Kari Casas, Bozena Didycz, Maja Djordjevic, Jozef L. Hertecant, Vincenzo Leuzzi, Per Mathisen, Francesca Nardecchia, Kimberly K. Powell, Frank Rutsch, Maja Stojiljkovic, Fritz K. Trefz, Natalia Usurelu, Callum Wilson, Clara D. van Karnebeek, William B. Hanley, Francjan J. van Spronsen
Publikováno v:
Nutrients, Vol 11, Iss 11, p 2572 (2019)
Phenylketonuria (PKU) management is aimed at preventing neurocognitive and psychosocial dysfunction by keeping plasma phenylalanine concentrations within the recommended target range. It can be questioned, however, whether universal plasma phenylalan
Externí odkaz:
https://doaj.org/article/8336d24fdd254e619523ebeab572d96b
Autor:
Kristin Ørstavik, Kjell Arne Arntzen, Per Mathisen, Paul Hoff Backe, Trine Tangeraas, Magnhild Rasmussen, Erle Kristensen, Marijke Van Ghelue, Christoffer Jonsrud, Yngve Thomas Bliksrud
Publikováno v:
JIMD Reports. 63:193-198
Autor:
Birgitte Leisner Bjerkely, Hege Pihlstrøm, Per Mathisen, Kristin Ørstavik, Olga Solberg, Mina Susanne Weedon-Fekjær, Ketil Heimdal, Solrun Sigurdardottir, Charlotte von der Lippe, Trond Jenssen, Dag Olav Dahle
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by multiorgan dysfunction. Since individuals with FD usually experience progressive clinical disease manifestations, their health-related quality of life (HRQOL) is
Autor:
Charlotte von der Lippe, Trond Jenssen, Hege Pihlstrøm, Olga Solberg, Dag Olav Dahle, Ketil Heimdal, Per Mathisen, Mina Susanne Weedon-Fekjær, Solrun Sigurdardottir, Kristin Ørstavik, Birgitte Leisner Bjerkely
Publikováno v:
JIMD Reports
JIMD Reports, Vol 62, Iss 1, Pp 56-69 (2021)
JIMD Reports, Vol 62, Iss 1, Pp 56-69 (2021)
Health‐related quality of life (HRQOL) is reduced in Fabry disease (FD) and associated with clinical disease manifestations, but few have used Fabry‐specific severity scores to study how disease burden interferes with quality of life. We investig
Autor:
Anne Naalsund, Per Mathisen
Publikováno v:
Tidsskrift for Den norske legeforening.
Autor:
Maja Djordjevic, Francjan J. van Spronsen, K. Ahring, Annemiek M. J. van Wegberg, Per Mathisen, Kari Casas, Francesca Nardecchia, Vincenzo Leuzzi, F. K. Trefz, Callum Wilson, William B. Hanley, Frank Rutsch, Kimberly K. Powell, Miroslaw Bik-Multanowski, Bozena Didycz, Clara D.M. van Karnebeek, Jozef Hertecant, Natalia Usurelu, Danique van Vliet, Maja Stojiljkovic
Publikováno v:
Nutrients
Nutrients, 11
Nutrients, 11(11):2572. MDPI AG
Nutrients, 11(11):2572. Multidisciplinary Digital Publishing Institute (MDPI)
Nutrients, 11, 11
Volume 11
Issue 11
Nutrients, Vol 11, Iss 11, p 2572 (2019)
Nutrients, 11
Nutrients, 11(11):2572. MDPI AG
Nutrients, 11(11):2572. Multidisciplinary Digital Publishing Institute (MDPI)
Nutrients, 11, 11
Volume 11
Issue 11
Nutrients, Vol 11, Iss 11, p 2572 (2019)
Phenylketonuria (PKU) management is aimed at preventing neurocognitive and psychosocial dysfunction by keeping plasma phenylalanine concentrations within the recommended target range. It can be questioned, however, whether universal plasma phenylalan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b57cc83d4e621e4a121acbacf67f50c2
http://hdl.handle.net/11573/1349390
http://hdl.handle.net/11573/1349390