Karin Naess

4PUBLICATIONS
24CO-AUTHORS
Major global burdens of diseaseNeurogeneticsMedical biochemistry - proteins and peptides (incl. medical proteomics)Neonatology
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Publications (4)

|Aug 06, 2026
Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency.

|Sep 22, 2025
Next-Generation Sequencing in the Diagnostic Workup of Neonatal Dried Blood Spot Screening in Sweden 2015-2023.

Lene Sörensen, Jorge Asin-Cayuela, Michela Barbaro

|Apr 14, 2025
Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency.

Helene Bruhn, Karin Naess, Sofia Ygberg

|Oct 19, 2020
Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data.

Lene Sörensen, Ulrika von Döbeln, Henrik Åhlman

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Frequent Collaborators

3 joint publications

Anna Wedell

2 joint publications

Lene Sörensen

2 joint publications

Rolf H Zetterström

2 joint publications

Helene Bruhn