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

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Title: A Nationwide Study of Pyruvate Dehydrogenase Complex Deficiency in Sweden: Epidemiology, Genotype-Phenotype Correlations, and Survival.
Authors: Savvidou A; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Sweden.; Department of Pediatrics, Sahlgrenska University Hospital, Region Västra Götaland, Gothenburg, Sweden., Sofou K; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Sweden.; Department of Pediatrics, Sahlgrenska University Hospital, Region Västra Götaland, Gothenburg, Sweden., Thunström S; The Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, The Sahlgrenska Academy, University of Gothenburg, Sweden.; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden., Ygberg S; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden.; Neuropediatric Unit, Astrid Lindgren Children's Hospital, Stockholm, Sweden., Eklund EA; Section for Pediatrics, Department of Clinical Sciences, Lund University, Sweden., Naess K; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden.; Neuropediatric Unit, Astrid Lindgren Children's Hospital, Stockholm, Sweden., Kollberg G; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Sweden; and.; Department of Clinical Chemistry, Sahlgrenska University Hospital, Region Västra Götaland, Gothenburg, Sweden., Darin N; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Sweden.; Department of Pediatrics, Sahlgrenska University Hospital, Region Västra Götaland, Gothenburg, Sweden.
Source: Neurology [Neurology] 2026 May 12; Vol. 106 (9), pp. e214924. Date of Electronic Publication: 2026 Apr 14.
Publication Type: Journal Article
Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1526-632X
DOI:10.1212/WNL.0000000000214924