article_metadata: Adrien Guillaume Vojtech Stejskal Guillaume Smits Dorottya Kelen
article_metadata: 10.3389/fped.2024.1303772
article_metadata: Front Pediatr
article_metadata: 2024 Feb 23:12:1303772.
article_metadata: slc25a46 clinical diagnosis neonatal encephalopathy pontocerebellar hypoplasia type 1e therapeutic strategies
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/38464896/
article_metadata: Case Reports
article_metadata: PMC10920260
article_metadata: 38464896
article_metadata: A novel homozygous variant in SLC25A46 gene associated with pontocerebellar hypoplasia type 1E: a case report
article_metadata: 2024