Hilde Monica Frostad Riise Stensland

Author

Also Known As

H M F Riise Stensland, H. M. F. Riise Stensland, H.M.F. Riise Stensland, Hilde M. F. R. Stensland, Hilde M. F. Riise Stensland, Hilde Monica F. Riise Stensland, Hilde Monica Frostad Riise Stensland, Hilde Monica Stensland, Hilde M. F. RIISE STENSLAND

Publications

539

Citations

H-Index

Concepts

All Affiliations

University Hospital of North Norway UiT The Arctic University of Norway University of Turku Zymenex (Denmark)Sahlgrenska University Hospital

About

Hilde Monica Frostad Riise Stensland is an author at University Hospital of North Norway specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	7	7	160
2	Public Health	2	2	67
3	Natural Sciences	1	1	23
4	Biology	1	1	21
5	Biostatistics	1	1	20

Hilde Monica Frostad Riise Stensland

Publications

478

Citations

H-Index

Page 1

	Year	Citations
Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation Line Borgwardt, Hilde Monica Frostad Riise Stensland, Klaus J Olsen, Orphanet Journal of Rare Diseases	2015	59
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations Claudia Voigt, André Mégarbané, Kornelia Neveling, Orphanet Journal of Rare Diseases	2013	54
The natural course and complications of alpha‐mannosidosis—a retrospective and descriptive study Dag Malm, Hilde Monica Frostad Riise Stensland, Øyvind Edvardsen, Journal of Inherited Metabolic Disease	2013	47
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, Human Mutation GeneticsHaplotype AnalysisGenetic EpidemiologyHuman PolymorphismMolecular Biology	2011	47
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, Journal of Inherited Metabolic Disease	2013	44
A MANBAmutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant Frédérique Sabourdy, Pierre Labauge, Hilde Monica Frostad Riise Stensland, BMC Medical Genetics	2009	25
Identification of two novel β-mannosidosis-associated sequence variants: Biochemical analysis of β-mannosidase (MANBA) missense mutations Hilde Monica Frostad Riise Stensland, Emanuele Persichetti, Carmelita Sorriso, Molecular Genetics and Metabolism Missense MutationsBiochemical AnalysisGeneticsGlycobiologyMolecular Biology	2008	24
Intracellular transport of human lysosomal α-mannosidase and α-mannosidosis-related mutants Gaute Martin Hansen, Thomas Berg, Hilde Monica Frostad Riise Stensland, Biochemical Journal	2004	24
Molecular and cellular characterization of novel α-mannosidosis mutations Elina Kuokkanen, Hilde Monica Frostad Riise Stensland, W. Clay Smith, Human Molecular Genetics Lysosomal Storage DiseaseGeneticsCellular CharacterizationMolecular BiologyCell Culture	2011	23
β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in <i>MANBA</i> Maria Blomqvist, Marie Falkenberg Smeland, Julia Lindgren, Molecular Case Studies	2019	22

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