Kalliopi Sofou

Goeteborg, O, Sweden

Last Updated: 09/26/2026

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Found 32 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

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency.

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency.

Journal: Annals of clinical and translational neurology

Published: March 25, 2026

Living with Duchenne muscular dystrophy as an adult: motor function, ventilatory assistance and health-related quality of life.

Living with Duchenne muscular dystrophy as an adult: motor function, ventilatory assistance and health-related quality of life.

Journal: Neuromuscular disorders : NMD

Published: November 10, 2025

A population-based study of severe, less common comorbidities in Duchenne muscular dystrophy.

A population-based study of severe, less common comorbidities in Duchenne muscular dystrophy.

Journal: Journal of neurology

Published: June 23, 2025

Respiratory comorbidities and treatments in Duchenne muscular dystrophy: impact on life expectancy and causes of death.

Respiratory comorbidities and treatments in Duchenne muscular dystrophy: impact on life expectancy and causes of death.

Journal: Journal of neurology

Published: February 26, 2024

Manifestations of X-linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers.

Manifestations of X-linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers.

Journal: European journal of neurology

Published: January 12, 2024

Drug-induced hyperthermia with rhabdomyolysis in CLN3 disease.

Drug-induced hyperthermia with rhabdomyolysis in CLN3 disease.

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

Published: November 19, 2021

Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency-Results from a nationwide population-based study.

Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency-Results from a nationwide population-based study.

Journal: Journal of inherited metabolic disease

Published: October 08, 2021

Parental experiences of having a child with CLN3 disease (juvenile Batten disease) and how these experiences relate to family resilience.

Parental experiences of having a child with CLN3 disease (juvenile Batten disease) and how these experiences relate to family resilience.

Journal: Child: care, health and development

Published: October 01, 2021

One in five patients with Duchenne muscular dystrophy dies from other causes than cardiac or respiratory failure.

One in five patients with Duchenne muscular dystrophy dies from other causes than cardiac or respiratory failure.

Journal: European journal of epidemiology

Published: May 31, 2021

Long term treatment with ataluren-the Swedish experience.

Long term treatment with ataluren-the Swedish experience.

Journal: BMC musculoskeletal disorders

Published: May 30, 2021

Renal Phenotype in Mitochondrial Diseases: A Multicenter Study.

Renal Phenotype in Mitochondrial Diseases: A Multicenter Study.

Journal: Kidney diseases (Basel, Switzerland)

Published: February 13, 2021

Showing 1-12 of 32

Last Updated: 09/26/2026