| 1. |
- Niemi, MEK, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 2. |
- Kanai, M, et al.
(författare)
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- 2023
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swepub:Mat__t
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| 3. |
- Burda, O., et al.
(författare)
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Resonance parameters of the first 1/2+ state in 9Be and astrophysical implications
- 2010
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Ingår i: Physical Review C - Nuclear Physics. - 2469-9985 .- 2469-9993. ; 82:1
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Tidskriftsartikel (refereegranskat)abstract
- Spectra of the Be-9(e, e') reaction have been measured at the Superconducting Darmstadt Electron Linear Accelerator at an electron energy of E-0 = 73 MeV and scattering angles of 93 degrees and 141 degrees with high-energy resolution up to excitation energies of E-x = 8 MeV. The astrophysically relevant resonance parameters of the first excited 1/2(+) state of Be-9 have been extracted in a one-level approximation of R-matrix theory, resulting in resonance energy E-R = 1.748(6) MeV and width Gamma(R) = 274(8) keV, which are in good agreement with the latest Be-9(gamma, n) experiment but with considerably improved uncertainties. However, the reduced B(E1) transition strength deduced from an extrapolation of the (e, e') data to the photon point is smaller by a factor of two. Implications of the new results for possible production of C-12 in neutron-rich astrophysical scenarios are discussed.
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| 4. |
- Burda, P, et al.
(författare)
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Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
- 2015
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Ingår i: Journal of Inherited Metabolic Disease. - : Wiley. - 0141-8955 .- 1573-2665. ; 38:5, s. 863-872
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Tidskriftsartikel (refereegranskat)abstract
- In the folate cycle MTHFD1, encoded by MTHFD1, is a trifunctional enzyme containing 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase activity. To date, only one patient with MTHFD1 deficiency, presenting with hyperhomocysteinemia, megaloblastic anaemia, hemolytic uremic syndrome (HUS) and severe combined immunodeficiency, has been identified (Watkins et al J Med Genet 48:590-2, 2011). We now describe four additional patients from two different families. The second patient presented with hyperhomocysteinemia, megaloblastic anaemia, HUS, microangiopathy and retinopathy; all except the retinopathy resolved after treatment with hydroxocobalamin, betaine and folinic acid. The third patient developed megaloblastic anaemia, infection, autoimmune disease and moderate liver fibrosis but not hyperhomocysteinemia, and was successfully treated with a regime that included and was eventually reduced to folic acid. The other two, elder siblings of the third patient, died at 9weeks of age with megaloblastic anaemia, infection and severe acidosis and had MTFHD1 deficiency diagnosed retrospectively. We identified a missense mutation (c.806C>T, p.Thr296Ile) and a splice site mutation (c.1674G>A) leading to exon skipping in the second patient, while the other three harboured a missense mutation (c.146C>T, p.Ser49Phe) and a premature stop mutation (c.673G>T, p.Glu225*), all of which were novel. Patient fibroblast studies revealed severely reduced methionine formation from [(14)C]-formate, which did not increase in cobalamin supplemented culture medium but was responsive to folic and folinic acid. These additional cases increase the clinical spectrum of this intriguing defect, provide in vitro evidence of disturbed methionine synthesis and substantiate the effectiveness of folic or folinic acid treatment.
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