Hilde Monica Frostad Riise Stensland

Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation

Line Borgwardt, Hilde Monica Frostad Riise Stensland, Klaus J Olsen et al. · Orphanet Journal of Rare Diseases · 2015 · 59 citations · Full text

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

Claudia Voigt, André Mégarbané, Kornelia Neveling et al. · Orphanet Journal of Rare Diseases · 2013 · 54 citations · Full text

The natural course and complications of alpha‐mannosidosis—a retrospective and descriptive study

Dag Malm, Hilde Monica Frostad Riise Stensland, Øyvind Edvardsen et al. · Journal of Inherited Metabolic Disease · 2013 · 47 citations

Identification of 83 novel alpha-mannosidosis-associated sequence variants: Functional analysis of MAN2B1 missense mutations

Hilde Monica Frostad Riise Stensland, Helle Bagterp Klenow, Lam Van Nguyen et al. · Human Mutation · 2011 · 47 citations · Full text

Genetics, Haplotype Analysis, Genetic Epidemiology +20

Enzyme replacement therapy for alpha‐mannosidosis: 12 months follow‐up of a single centre, randomised, multiple dose study

Lise Borgwardt, Christine í Dali, J. Fogh et al. · Journal of Inherited Metabolic Disease · 2013 · 44 citations