Hilde Monica Frostad Riise Stensland

Summary

Affiliation: University Hospital of North Norway
Country: Norway

Publications

  1. ncbi Identification of two novel beta-mannosidosis-associated sequence variants: biochemical analysis of beta-mannosidase (MANBA) missense mutations
    Hilde Monica Frostad Riise Stensland
    Department of Medical Genetics, University Hospital of Northern Norway, Tromsø, Norway
    Mol Genet Metab 94:476-80. 2008
  2. ncbi Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations
    Hilde Monica Frostad Riise Stensland
    Division of Child and Adolescent Health, Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway
    Hum Mutat 33:511-20. 2012
  3. ncbi A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant
    Frédérique Sabourdy
    Laboratoire de Biochimie Maladies Métaboliques, Institut Fédératif de Biologie, CHU Purpan, Toulouse, France
    BMC Med Genet 10:84. 2009

Collaborators

  • Hilde Monica Frostad Riise Stensland
  • Gaute Martin Hansen
  • Frédérique Sabourdy
  • Lam Van Nguyen
  • Helle Bagterp Klenow
  • Dag Malm
  • Øivind Nilssen
  • Violeta Latorre Garcés
  • Michèle Nieto
  • Dimitri Renard
  • Nicolas de Champfleur
  • Pierre Labauge
  • Giovanni Castelnovo
  • Thierry Levade
  • Lucia Bibi
  • Tommaso Beccari
  • Chiara Balducci
  • Silvia Paciotti
  • Emanuele Persichetti
  • Carmelita Sorriso

Detail Information

Publications3

  1. ncbi Identification of two novel beta-mannosidosis-associated sequence variants: biochemical analysis of beta-mannosidase (MANBA) missense mutations
    Hilde Monica Frostad Riise Stensland
    Department of Medical Genetics, University Hospital of Northern Norway, Tromsø, Norway
    Mol Genet Metab 94:476-80. 2008
    ..We propose that the milder phenotype described in some beta-mannosidosis patients with missense mutations in the MANBA gene is not due to residual beta-mannosidase activity, but rather caused by epigenetic and/or environmental factors...
  2. ncbi Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations
    Hilde Monica Frostad Riise Stensland
    Division of Child and Adolescent Health, Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway
    Hum Mutat 33:511-20. 2012
    ..The majority of the variants were inactive, however, ten showed MAN2B1 activity above background, and more detailed studies are necessary to further evaluate the pathogenicity of these variants...
  3. ncbi A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant
    Frédérique Sabourdy
    Laboratoire de Biochimie Maladies Métaboliques, Institut Fédératif de Biologie, CHU Purpan, Toulouse, France
    BMC Med Genet 10:84. 2009
    ..These are all null mutations or missense mutations that abolish beta-mannosidase activity. In this study, we characterized the molecular defect of a new case of beta-mannosidosis, presenting with a severe neurological disorder...