Characteristic Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency.
Journal
medRxiv : the preprint server for health sciences
Titre abrégé: medRxiv
Pays: United States
ID NLM: 101767986
Informations de publication
Date de publication:
10 Apr 2024
10 Apr 2024
Historique:
medline:
22
4
2024
pubmed:
22
4
2024
entrez:
22
4
2024
Statut:
epublish
Résumé
Pyruvate dehydrogenase complex deficiency (PDCD) is a disorder of mitochondrial metabolism that is caused by pathogenic variants in multiple genes, including
Identifiants
pubmed: 38645225
doi: 10.1101/2024.04.08.24303574
pmc: PMC11030481
pii:
doi:
Types de publication
Preprint
Langues
eng