Gittan Kollberg

Goeteborg, O, Sweden

Last Updated: 09/26/2026

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Found 21 publications

A Nationwide Study of Pyruvate Dehydrogenase Complex Deficiency in Sweden: Epidemiology, Genotype-Phenotype Correlations, and Survival.

A Nationwide Study of Pyruvate Dehydrogenase Complex Deficiency in Sweden: Epidemiology, Genotype-Phenotype Correlations, and Survival.

Journal: Neurology

Published: April 14, 2026

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B).

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B).

Journal: American journal of medical genetics. Part A

Published: July 02, 2024

A novel homozygous pathogenic missense variant in COX6B1: Further delineation of the phenotype.

A novel homozygous pathogenic missense variant in COX6B1: Further delineation of the phenotype.

Journal: American journal of medical genetics. Part A

Published: February 21, 2024

Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients with mitochondrial myopathy associated with the homoplasmic m.14674T>C variant.

Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients with mitochondrial myopathy associated with the homoplasmic m.14674T>C variant.

Journal: Brain pathology (Zurich, Switzerland)

Published: June 28, 2021

Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study.

Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study.

Journal: Journal of medical genetics

Published: June 14, 2021

The phenotypic variability and natural history of NARS2 associated disease.

The phenotypic variability and natural history of NARS2 associated disease.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: October 15, 2020

Functional analysis of a novel POLγA mutation associated with a severe perinatal mitochondrial encephalomyopathy.

Functional analysis of a novel POLγA mutation associated with a severe perinatal mitochondrial encephalomyopathy.

Journal: Neuromuscular disorders : NMD

Published: October 12, 2020

TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism.

TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism.

Journal: Journal of inherited metabolic disease

Published: December 18, 2018

Prenatal onset of mitochondrial disease is associated with sideroflexin 4 deficiency.

Prenatal onset of mitochondrial disease is associated with sideroflexin 4 deficiency.

Journal: Mitochondrion

Published: October 26, 2018

Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile.

Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile.

Journal: European journal of human genetics : EJHG

Published: May 25, 2018

Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.

Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.

Journal: Orphanet journal of rare diseases

Published: October 18, 2016

Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation in MTTL1.

Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation in MTTL1.

Journal: European journal of neurology

Published: September 26, 2016

Showing 1-12 of 21

Last Updated: 09/26/2026