Sofia Ygberg
Stockholm, AB, Sweden
Last Updated: 09/26/2026
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Found 34 publications
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.
Journal: Annals of clinical and translational neurology
Published: March 25, 2026
MRPS22 variants alter mitochondrial ribosome assembly in patients with leukodystrophy, movement disorder and intellectual impairment.
Journal: Human molecular genetics
Published: December 09, 2025
The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation.
Journal: Genome medicine
Published: May 31, 2025
Neurocognitive outcome in children and adolescents following infectious encephalitis.
Journal: Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence
Published: November 16, 2023
Human In Vitro Models of Neuroenergetics and Neurometabolic Disturbances: Current Advances and Clinical Perspectives.
Journal: Stem cells translational medicine
Published: November 01, 2023
A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy.
Journal: Biomedicines
Published: September 30, 2022
The Swedish COG6-CDG experience and a comprehensive literature review.
Journal: JIMD reports
Published: June 08, 2022
Case report: Fatal outcome of pyridoxine-dependent epilepsy presenting as respiratory distress followed by a circulatory collapse.
Journal: Frontiers in pediatrics
Published: May 09, 2022
Last Updated: 09/26/2026