From Severe Neonatal Encephalopathy to Slowly Neurologic Progressive Disease: Pyruvate Dehydrogenase Deficiency Related to PDHA1 Variants.

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Title:	From Severe Neonatal Encephalopathy to Slowly Neurologic Progressive Disease: Pyruvate Dehydrogenase Deficiency Related to PDHA1 Variants.
Authors:	Corbaz S; Department of Neurology, Hospital de Pediatría 'Prof. Dr. Juan P. Garrahan,' Buenos Aires, Argentina., Pibernus DA; Genomics Unit, Hospital de Pediatría 'Prof. Dr. Juan P. Garrahan,' Buenos Aires, Argentina., Loos MA; Department of Neurology, Hospital de Pediatría 'Prof. Dr. Juan P. Garrahan,' Buenos Aires, Argentina., Pérez MM; Genomics Unit, Hospital de Pediatría 'Prof. Dr. Juan P. Garrahan,' Buenos Aires, Argentina., Buompadre MC; Department of Neurology, Hospital de Pediatría 'Prof. Dr. Juan P. Garrahan,' Buenos Aires, Argentina., García FM; Genomics Unit, Hospital de Pediatría 'Prof. Dr. Juan P. Garrahan,' Buenos Aires, Argentina., Rodriguez MP; Genomics Unit, Hospital de Pediatría 'Prof. Dr. Juan P. Garrahan,' Buenos Aires, Argentina., Rugilo C; Department of Radiology, Hospital de Pediatría 'Prof. Dr. Juan P. Garrahan,' Buenos Aires, Argentina., Armeno M; Department of Nutrition, Hospital de Pediatría 'Prof Dr. Juan P. Garrahan,' Buenos Aires, Argentina., Seo GH; 3billion Inc, Seoul, South Korea., Khang R; 3billion Inc, Seoul, South Korea., Alonso CN; Genomics Unit, Hospital de Pediatría 'Prof. Dr. Juan P. Garrahan,' Buenos Aires, Argentina., Aráoz HV; Molecular Biology Laboratory, Hospital de Pediatría 'Prof. Dr. Juan P. Garrahan,' Buenos Aires, Argentina.
Source:	Journal of child neurology [J Child Neurol] 2025 Dec 23, pp. 8830738251404115. Date of Electronic Publication: 2025 Dec 23.
Publication Type:	Journal Article
Journal Info:	Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE
Database:	MEDLINE Ultimate

Description
ISSN:	1708-8283
DOI:	10.1177/08830738251404115