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Search: WFRF:(Andreasson U.) > Other academic/artistic

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  • Andreasson, M, et al. (author)
  • MCEE Mutations in an Adult Patient with Parkinson's Disease, Dementia, Stroke and Elevated Levels of Methylmalonic Acid
  • 2019
  • In: International journal of molecular sciences. - : MDPI AG. - 1422-0067. ; 20:11
  • Journal article (other academic/artistic)abstract
    • Methylmalonic aciduria (MMA-uria) is seen in several inborn errors of metabolism (IEM) affecting intracellular cobalamin pathways. Methylmalonyl-CoA epimerase (MCE) is an enzyme involved in the mitochondrial cobalamin-dependent pathway generating succinyl-CoA. Homozygous mutations in the corresponding MCEE gene have been shown in children to cause MCE deficiency with isolated MMA-uria and a variable clinical phenotype. We describe a 78-year-old man with Parkinson’s disease, dementia and stroke in whom elevated serum levels of methylmalonic acid had been evident for many years. Metabolic work-up revealed intermittent MMA-uria and increased plasma levels of propionyl-carnitine not responsive to treatment with high-dose hydroxycobalamin. Whole genome sequencing was performed, with data analysis targeted towards genes known to cause IEM. Compound heterozygous mutations were identified in the MCEE gene, c.139C>T (p.Arg47X) and c.419delA (p.Lys140fs), of which the latter is novel. To our knowledge, this is the first report of an adult patient with MCEE mutations and MMA-uria, thus adding novel data to the possible phenotypical spectrum of MCE deficiency. Although clinical implications are uncertain, it can be speculated whether intermittent hyperammonemia during episodes of metabolic stress could have precipitated the patient’s ongoing neurodegeneration attributed to Parkinson’s disease.
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  • Mill, O., et al. (author)
  • Analysis and development of hydro power research : synthesis within Swedish Hydro Power Centre
  • 2010
  • Reports (other academic/artistic)abstract
    • The market for hydropower re-investments in Sweden is approx 2.5 billion SEK/yr the coming decade. Large investments will also be carried out in Swedish tailing dams. This will result in challenging projects and need of experts. A crucial factor for a successful management of these challenges is the supply of engineers and researchers with hydro power and dam skills and knowledge. Swedish Hydro Power Centre (Svenskt vattenkraftcentrum, SVC) is a competence centre for university education and research environments within hydro power and mining dams. SVC comprises of two knowledge areas: Hydraulic Engineering and Hydro Turbines and Generators, respectively. SVC builds high-quality and long term sustainable knowledge at selected universities...
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  • Result 1-4 of 4

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