T
Torunn Fiskerstrand
Researcher at Haukeland University Hospital
Publications - 54
Citations - 2775
Torunn Fiskerstrand is an academic researcher from Haukeland University Hospital. The author has contributed to research in topics: Homocysteine & Hyperhomocysteinemia. The author has an hindex of 22, co-authored 54 publications receiving 2543 citations. Previous affiliations of Torunn Fiskerstrand include University of Bergen.
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Journal ArticleDOI
Homocysteine and other thiols in plasma and urine: automated determination and sample stability.
TL;DR: Modifications and the standardization of blood-sampling procedures have substantially improved the method and broadened its applications.
Journal ArticleDOI
Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19
Cecilie Bredrup,Sophie Saunier,Sophie Saunier,Machteld M. Oud,Torunn Fiskerstrand,Torunn Fiskerstrand,Alexander Hoischen,Alexander Hoischen,Damien Brackman,Sabine Leh,Marit Midtbø,Emilie Filhol,Emilie Filhol,Christine Bole-Feysot,Patrick Nitschké,Christian Gilissen,Olav H. Haugen,Olav H. Haugen,Jan-Stephan F. Sanders,Irene Stolte-Dijkstra,Dorus A. Mans,Eric J. Steenbergen,Ben C.J. Hamel,Marie Matignon,Rolph Pfundt,Cécile Jeanpierre,Cécile Jeanpierre,Helge Boman,Helge Boman,Eyvind Rødahl,Eyvind Rødahl,Joris A. Veltman,Per M. Knappskog,Per M. Knappskog,Nine V A M Knoers,Ronald Roepman,Heleen H. Arts +36 more
TL;DR: The results suggest that isolated nephronophthisis, Jeune, and Sensenbrenner syndromes are clinically overlapping disorders that can result from a similar molecular cause.
Journal ArticleDOI
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis
Zandra A. Jenkins,Margriet van Kogelenberg,Timothy R. Morgan,Aaron Jeffs,Ryuji Fukuzawa,Esther J. Pearl,Christina Thaller,Anne V. Hing,Mary Porteous,Sixto García-Miñaur,Axel Bohring,Didier Lacombe,Fiona Stewart,Torunn Fiskerstrand,Laurence A. Bindoff,Siren Berland,Lesley C. Adès,Lesley C. Adès,Michel Tchan,Albert David,Louise C. Wilson,Raoul C.M. Hennekam,Dian Donnai,Sahar Mansour,Valérie Cormier-Daire,Stephen P. Robertson +25 more
TL;DR: It is demonstrated that germline mutations in WTX (FAM123B), a gene that encodes a repressor of canonical WNT signaling, cause an X-linked sclerosing bone dysplasia, osteopathia striata congenita with cranial sclerosis (OSCS); individuals with OSCS are not predisposed to tumor development.
Journal ArticleDOI
Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism
Torunn Fiskerstrand,Dorra H'mida-Ben Brahim,Stefan Johansson,A. M’zahem,Bjørn Ivar Haukanes,Nathalie Drouot,Julian Zimmermann,Andrew J. Cole,Christian A. Vedeler,Christian A. Vedeler,Cecilie Bredrup,Mirna Assoum,Meriem Tazir,Thomas Klockgether,Abdelmadjid Hamri,Vidar M. Steen,Vidar M. Steen,Helge Boman,Laurence A. Bindoff,Laurence A. Bindoff,Michel Koenig,Per M. Knappskog,Per M. Knappskog +22 more
TL;DR: The findings show that ABHD12 performs essential functions in both the central and peripheral nervous systems and the eye, and any future drug-mediated interference with this enzyme should consider the potential risk of long-term adverse effects.
Journal ArticleDOI
Plasma concentrations of homocysteine and other aminothiol compounds are related to food intake in healthy human subjects.
TL;DR: Dietary changes in plasma homocysteine will probably not affect the evaluation of vitamin deficiency states associated with moderate to severe hyperhomocysteinemia but may be of concern in the risk assessment of cardiovascular disease in patients with mild hyperHomocysteemia.