Publications by authors named "Karin Naess"

33Publications

Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data.

Int J Neonatal Screen 2020 Jun 27;6(2):42. Epub 2020 May 27.

Centre for Inherited Metabolic Diseases, Karolinska University Hospital Solna, SE-171 76 Stockholm, Sweden; (U.v.D.); (H.Å.); (A.O.); (M.E.); (K.N.); (C.B.-J.); (Y.N.); (A.W.); (R.H.Z.).

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http://dx.doi.org/10.3390/ijns6020042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7423009PMC
June 2020

Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain.

J Pediatr 2020 Aug 19. Epub 2020 Aug 19.

Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.jpeds.2020.08.025DOI Listing
August 2020

Children with mucopolysaccharidosis risk progressive visual dysfunction despite haematopoietic stem cell transplants.

Acta Paediatr 2018 11 23;107(11):1995-2003. Epub 2018 May 23.

Astrid Lindgren Childrens' Hospital, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1111/apa.14368DOI Listing
November 2018

Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients.

J Med Genet 2018 01 3;55(1):21-27. Epub 2017 Nov 3.

Department of Pediatrics, The Queen Silvia Children's Hospital, University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1136/jmedgenet-2017-104891DOI Listing
January 2018

A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.

Hum Mol Genet 2017 07;26(13):2515-2525

Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Division of Metabolic Diseases, Department of Laboratory Medicine, Karolinska Institutet, Stockholm, SE-171 77, Sweden.

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http://dx.doi.org/10.1093/hmg/ddx146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886115PMC
July 2017

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.

Am J Hum Genet 2015 Nov 29;97(5):761-8. Epub 2015 Oct 29.

Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Division of Metabolic Diseases, Department of Laboratory Medicine, Karolinska Institutet, 171 77 Stockholm, Sweden; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, 171 76 Stockholm, Sweden; Science for Life Laboratory and Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.ajhg.2015.09.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4667130PMC
November 2015

Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.

J Med Genet 2015 Nov 17;52(11):779-83. Epub 2015 Jun 17.

Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Division of Metabolic Diseases, Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden Department of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet, Stockholm, Sweden.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2015-102986
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http://dx.doi.org/10.1136/jmedgenet-2015-102986DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4680133PMC
November 2015

Cerebrospinal fluid brain injury biomarkers in children: a multicenter study.

Pediatr Neurol 2013 Jul;49(1):31-39.e2

Clinical Neurochemistry Laboratory, Institute of Neuroscience and Physiology, Department of Neurochemistry, Sahlgrenska University Hospital/Mölndal, Sweden.

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http://dx.doi.org/10.1016/j.pediatrneurol.2013.02.015DOI Listing
July 2013

Partial tetrasomy 14 associated with multiple malformations.

Am J Med Genet A 2013 Jun 23;161A(6):1284-90. Epub 2013 Apr 23.

Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1002/ajmg.a.35887DOI Listing
June 2013

Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome.

JIMD Rep 2012 20;4:67-73. Epub 2011 Oct 20.

Department of Laboratory Medicine, Division of Metabolic Diseases, Karolinska Institutet, CMMS C2-71 Karolinska University Hospital Huddinge, 141 86, Stockholm, Sweden.

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http://dx.doi.org/10.1007/8904_2011_73DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509876PMC
February 2013

Visual function, ocular motility and ocular characteristics in patients with mitochondrial complex I deficiency.

Acta Ophthalmol 2012 Feb 23;90(1):32-43. Epub 2010 Mar 23.

Department of Clinical Neuroscience, Karolinska Institutet and Department of Paediatric Ophthalmology and Strabismus, St. Erik Eye Hospital, Stockholm, Sweden.

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http://doi.wiley.com/10.1111/j.1755-3768.2010.01865.x
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http://dx.doi.org/10.1111/j.1755-3768.2010.01865.xDOI Listing
February 2012

Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion.

Neuromuscul Disord 2010 Mar 18;20(3):198-203. Epub 2010 Jan 18.

Department of Laboratory Medicine, Division of Metabolic Diseases, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.nmd.2009.11.013DOI Listing
March 2010

AGC1 deficiency associated with global cerebral hypomyelination.

N Engl J Med 2009 Jul;361(5):489-95

Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1056/NEJMoa0900591DOI Listing
July 2009

Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.

Hum Mutat 2009 Jul;30(7):E728-36

Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/humu.21037DOI Listing
July 2009

[Progress on lysosomal diseases yields hope for cure and improvement].

Lakartidningen 2008 Dec;105(51-52):3731-5

Sektionen för barnneurologi och habilitering, Barnens sjukhus, Karolinska Universitetssjukhuset Huddinge, Stockholm.

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December 2008

MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome.

Biochim Biophys Acta 2009 May 6;1787(5):484-90. Epub 2008 Dec 6.

Department of Clinical Sciences, Karolinska University Hospital, S-141 86 Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.bbabio.2008.11.014DOI Listing
May 2009

Outcome in six children with mucopolysaccharidosis type IH, Hurler syndrome, after haematopoietic stem cell transplantation (HSCT).

Acta Paediatr 2008 Aug 29;97(8):1108-12. Epub 2008 Apr 29.

Department of Clinical Science, Intervention and Technology, Division of Paediatrics, Karolinska Institutet, Huddinge, Sweden.

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http://doi.wiley.com/10.1111/j.1651-2227.2008.00811.x
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http://dx.doi.org/10.1111/j.1651-2227.2008.00811.xDOI Listing
August 2008

Secondary metabolic effects in complex I deficiency.

Ann Neurol 2005 Oct;58(4):544-52

Department of Women and Childrens Health, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1002/ana.20570DOI Listing
October 2005