Elisabeth Holme
Goeteborg, O, Sweden
Last Updated: 09/26/2026
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Found 9 publications
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
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
Journal: Journal of inherited metabolic disease
Published: October 31, 2014
Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome.
Journal: Molecular genetics & genomic medicine
Published: May 21, 2014
Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia [corrected].
Journal: Human molecular genetics
Published: March 01, 2013
A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy.
Journal: European journal of human genetics : EJHG
Published: July 12, 2012
Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec.
Journal: Molecular genetics and metabolism
Published: May 27, 2012
Plasma succinylacetone is persistently raised after liver transplantation in tyrosinaemia type 1.
Journal: Journal of inherited metabolic disease
Published: December 12, 2011
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Last Updated: 09/26/2026