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. |
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| 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 |
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