Berit Woldseth
Oslo, Norway
Last Updated: 09/26/2026
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Found 10 publications
A monoallelic UXS1 variant associated with short-limbed short stature.
Journal: Molecular genetics & genomic medicine
Published: January 19, 2024
The effects of transitioning from immediate release to extended release cysteamine therapy in Norwegian patients with nephropathic cystinosis: a retrospective study.
Journal: Pediatric nephrology (Berlin, Germany)
Published: November 28, 2022
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.
Journal: International journal of neonatal screening
Published: May 15, 2020
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Journal: Journal of inherited metabolic disease
Published: July 03, 2015
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.
Journal: Human molecular genetics
Published: June 02, 2015
Genome instability in Maple Syrup Urine Disease correlates with impaired mitochondrial biogenesis.
Journal: Metabolism: clinical and experimental
Published: January 28, 2014
No effect of combined coenzyme Q10 and selenium supplementation on atorvastatin-induced myopathy.
Journal: Scandinavian cardiovascular journal : SCJ
Published: January 11, 2013
Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene.
Journal: Scandinavian journal of clinical and laboratory investigation
Published: May 05, 2012
Metabolic acidosis mimicking diabetic ketoacidosis after use of calorie-free mineral water.
Journal: European journal of pediatrics
Published: February 20, 2012
Showing 1-10 of 10
Last Updated: 09/26/2026