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Karin Naess

Showing results (1-10 of 55) with videos related to

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Lakartidningen|March 13, 2009
[Progress on lysosomal diseases yields hope for cure and improvement]Gunilla Malm, Ulrika von Döbeln, Karin Naess, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 24, 2026
Peroxisomal disorders - incidences in SwedenMaria Blomqvist, Karin Naess, Jan-Eric Månsson, et al.
BMC Ophthalmology|September 26, 2023
Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case reportKarl De Geer, Katarzyna Mascianica, Karin Naess, et al.
Acta Paediatrica (Oslo, Norway : 1992)|April 24, 2018
Children with mucopolysaccharidosis risk progressive visual dysfunction despite haematopoietic stem cell transplantsKristina Teär Fahnehjelm, Monica Olsson, Enping Chen, et al.
Analytical Biochemistry|October 31, 2025
Advancing a sensitive method for measuring mitochondrial ATP production in small muscle biopsy samplesRolf Wibom, David Alsina, Karin Naess, et al.
Acta Ophthalmologica|March 30, 2010
Visual function, ocular motility and ocular characteristics in patients with mitochondrial complex I deficiencyKristina Teär Fahnehjelm, Monica Olsson, Karin Naess, et al.
Acta Paediatrica (Oslo, Norway : 1992)|May 3, 2008
Outcome in six children with mucopolysaccharidosis type IH, Hurler syndrome, after haematopoietic stem cell transplantation (HSCT)Gunilla Malm, Britt Gustafsson, Gunilla Berglund, et al.
Neurology|April 14, 2026
A Nationwide Study of Pyruvate Dehydrogenase Complex Deficiency in Sweden: Epidemiology, Genotype-Phenotype Correlations, and SurvivalAntri Savvidou, Kalliopi Sofou, Sofia Thunström, et al.
Ophthalmic Genetics|November 3, 2022
Visual outcome, ocular findings, and visual quality of life in patients with Fabry diseaseMattias Nilsson, Hani Tavakoli Kolagari, David Epstein, et al.
Neuromuscular Disorders : NMD|January 20, 2010
Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletionNicole Lesko, Karin Naess, Rolf Wibom, et al.
Pageof 6

Showing results (1-10 of 55) with videos related to

Sort By:
Pageof 6
Lakartidningen|March 13, 2009
[Progress on lysosomal diseases yields hope for cure and improvement]Gunilla Malm, Ulrika von Döbeln, Karin Naess, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 24, 2026
Peroxisomal disorders - incidences in SwedenMaria Blomqvist, Karin Naess, Jan-Eric Månsson, et al.
BMC Ophthalmology|September 26, 2023
Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case reportKarl De Geer, Katarzyna Mascianica, Karin Naess, et al.
Acta Paediatrica (Oslo, Norway : 1992)|April 24, 2018
Children with mucopolysaccharidosis risk progressive visual dysfunction despite haematopoietic stem cell transplantsKristina Teär Fahnehjelm, Monica Olsson, Enping Chen, et al.
Analytical Biochemistry|October 31, 2025
Advancing a sensitive method for measuring mitochondrial ATP production in small muscle biopsy samplesRolf Wibom, David Alsina, Karin Naess, et al.
Acta Ophthalmologica|March 30, 2010
Visual function, ocular motility and ocular characteristics in patients with mitochondrial complex I deficiencyKristina Teär Fahnehjelm, Monica Olsson, Karin Naess, et al.
Acta Paediatrica (Oslo, Norway : 1992)|May 3, 2008
Outcome in six children with mucopolysaccharidosis type IH, Hurler syndrome, after haematopoietic stem cell transplantation (HSCT)Gunilla Malm, Britt Gustafsson, Gunilla Berglund, et al.
Neurology|April 14, 2026
A Nationwide Study of Pyruvate Dehydrogenase Complex Deficiency in Sweden: Epidemiology, Genotype-Phenotype Correlations, and SurvivalAntri Savvidou, Kalliopi Sofou, Sofia Thunström, et al.
Ophthalmic Genetics|November 3, 2022
Visual outcome, ocular findings, and visual quality of life in patients with Fabry diseaseMattias Nilsson, Hani Tavakoli Kolagari, David Epstein, et al.
Neuromuscular Disorders : NMD|January 20, 2010
Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletionNicole Lesko, Karin Naess, Rolf Wibom, et al.
Pageof 6