Search Results - "FISKERSTRAND, T"

Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG) by LAINE, C. M, CHUNG, B. D, COLE, W. G, NETZER, C, MÄKITIE, O, SUSIC, M, PRESCOTT, T, SEMLER, O, FISKERSTRAND, T, D'EUFEMIA, P, CASTORI, M, PEKKINEN, M, SOCHETT, E

“…Osteoporosis-pseudoglioma sydrome (OPPG) is an autosomal recessive disorder with early-onset severe osteoporosis and blindness, caused by biallelic…”
Get full text

A novel Refsum-like disorder that maps to chromosome 20 by FISKERSTRAND, T, KNAPPSKOG, P, MAJEWSKI, J, WANDERS, R. J, BOMAN, H, BINDOFF, L. A

“…Clinical and genetic characterization of a neurologic disorder resembling Refsum disease in a Norwegian consanguineous family. The affected individuals…”
Get full text

Homocysteine and other thiols in plasma and urine: automated determination and sample stability by Fiskerstrand, T, Refsum, H, Kvalheim, G, Ueland, P M

“…We have developed a modified version of our fully automated column-switching HPLC method for determining total plasma homocysteine based on single-column…”
Get more information

A mother and daughter with unexplained renal failure by Christiansen, R E, Fiskerstrand, T, Leh, S, Haukanes, B I, Singh, A K, Fervenza, F C, Svarstad, E

Get more information

Three patients with osteoporosis-pseudoglioma syndrome (OPPG) due to novel splice site mutations in LRP5 by Laine, C.M, Susic, M, Prescott, T.E, Netzer, C, Fiskerstrand, T, Chung, B, Cole, W.G, Sochett, E, Mäkitie, O

Get full text

O.21 Genetic characterisation of PHARC – a novel syndrome resembling Refsum’s disease by Bindoff, L.A, Fiskerstrand, T, Brahim, D. H’mida-Ben, Johansson, S, M’zahem, A, Haukanes, B.I, Drouot, N, Zimmermann, J, Cole, A.J, Vedeler, C, Bredrup, C, Assoum, M, Tazir, M, Klockgether, T, Hamri, A, Steen, V.M, Boman, H, Koenig, M, Knappskog, P.M

Get full text

Plasma concentrations of homocysteine and other aminothiol compounds are related to food intake in healthy human subjects by Guttormsen, A B, Schneede, J, Fiskerstrand, T, Ueland, P M, Refsum, H M

“…We investigated total, free and protein-bound plasma homocysteine, cysteine and cysteinylglycine in 13 subjects aged 24-29 y after a breakfast at 0900 h…”
Get more information

Assessment of homocysteine status by Refsum, H., Fiskerstrand, T., Guttormsen, A. B., Ueland, P. M.

“…Plasma total homocysteine (tHcy) determination is used in the diagnosis of homocystinuria, in cobalamin and folate deficiency and in cardiovascular risk…”
Get full text

Hyperhomocysteinemia in terms of steady-state kinetics by Refsum, H, Guttormsen, A B, Fiskerstrand, T, Ueland, P M

“…The plasma level of homocysteine (Hcy) and its oxidized products, i.e., plasma total Hcy (tHcy), is a function of the influx rate of Hcy to plasma and the…”
Get full text

Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism by Fiskerstrand, Torunn, H'mida-Ben Brahim, Dorra, Johansson, Stefan, M'zahem, Abderrahim, Haukanes, Bjørn Ivar, Drouot, Nathalie, Zimmermann, Julian, Cole, Andrew J., Vedeler, Christian, Bredrup, Cecilie, Assoum, Mirna, Tazir, Meriem, Klockgether, Thomas, Hamri, Abdelmadjid, Steen, Vidar M., Boman, Helge, Bindoff, Laurence A., Koenig, Michel, Knappskog, Per M.

“…Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a neurodegenerative disease marked by early-onset cataract and hearing…”
Get full text

Elevated cerebrospinal fluid protein in POLG‐related epilepsy: Diagnostic and prognostic implications by Hikmat, Omar, Naess, Karin, Engvall, Martin, Klingenberg, Claus, Rasmussen, Magnhild, Tallaksen, Chantal M. E., Brodtkorb, Eylert, Fiskerstrand, Torunn, Isohanni, Pirjo, Uusimaa, Johanna, Darin, Niklas, Rahman, Shamima, Bindoff, Laurence A.

“…Summary Objective Epilepsy is common in individuals with mutations in POLG, the gene encoding the catalytic subunit of the mitochondrial DNA polymerase gamma…”
Get full text

Proliferation, migration and invasion of human glioma cells exposed to antifolate drugs by Terzis, A J, Fiskerstrand, T, Refsum, H, Ueland, P M, Arnold, H, Bjerkvig, R

“…The present study describes the effects of 2 folate antagonists, methotrexate (MTX) and the lipophilic antifolate trimetrexate (TMX) on 2 permanent human…”
Get more information

P.P.4 09 Spectrum of mutations and prevalence of FKRP associated disease in Norway by Jonsrud, C., Lindal, S., Torbergsen, T., Stensland, E., Rasmussen, M., Borota, O., Skullerud, K., Bindoff, L.A., Fiskerstrand, T., Thyssen, F.M., Nilssen, Ø.

Get full text

Folate depletion induced by methotrexate affects methionine synthase activity and its susceptibility to inactivation by nitrous oxide by Fiskerstrand, T, Ueland, P M, Refsum, H

“…We compared the effects of methotrexate (MTX) and nitrous oxide on the methionine (Met) synthase system in two variants of a human glioma cell line. The cells…”
Get more information

Co-ordinate variations in methylmalonyl-CoA mutase and methionine synthase, and the cobalamin cofactors in human glioma cells during nitrous oxide exposure and the subsequent recovery phase by Riedel, B, Fiskerstrand, T, Refsum, H, Ueland, P M

“…We investigated the co-ordinate variations of the two cobalamin (Cbl)-dependent enzymes, methionine synthase (MS) and methylmalonyl-CoA mutase (MCM), and…”
Get full text

Development and reversion of methionine dependence in a human glioma cell line : relation to homocysteine remethylation and cobalamin status by FISKERSTRAND, T, CHRISTENSEN, B, TYSNES, O. B, UELAND, P. M, REFSUM, H

“…We investigated the biochemical changes which accompanied the development and reversion of methionine dependence in a human glioma cell line GaMg. This cell…”
Get full text

Response of the methionine synthase system to short‐term culture with homocysteine and nitrous oxide and its relation to methionine dependence by Fiskerstrand, Torunn, Ueland, Per M., Refsum, Helga

“…We compared the metabolic response of a methionine(Met)‐dependent (P60) human glioma cell line with that of a Met‐independent variant (P60H) when cultured in a…”
Get full text

Disruption of a Regulatory System Involving Cobalamin Distribution and Function in a Methionine-dependent Human Glioma Cell Line by Fiskerstrand, Torunn, Riedel, Bettina, Ueland, Per M., Seetharam, Bellur, Pezacka, Ewa H., Gulati, Sumedha, Bose, Santanu, Banerjee, Ruma, Berge, Rolf K., Refsum, Helga

“…Cobalamin metabolism and function were investigated at the levels from transcobalamin II (TCII) receptor to the cobalamin-dependent enzymes, methionine…”
Get full text

Redox status and protein binding of plasma aminothiols during the transient hyperhomocysteinemia that follows homocysteine administration by Mansoor, M A, Guttormsen, A B, Fiskerstrand, T, Refsum, H, Ueland, P M, Svardal, A M

“…We administered reduced L-homocysteine perorally (67 mumol/kg of body wt) to 12 healthy subjects and injected the same dose into one person, and determined the…”
Get more information

Kinetics of plasma homocysteine in healthy subjects after peroral homocysteine loading by Guttormsen, A B, Mansoor, A M, Fiskerstrand, T, Ueland, P M, Refsum, H

“…The kinetics of plasma homocysteine were determined in 13 healthy subjects after peroral administration and in one person after intravenous injection. Various…”
Get more information