Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy

Adenylosuccinase deficiency is a rare inborn error of metabolism. We present a newborn who died at 52 days of age with clinical features suggestive of severe epileptic encephalopathy and leukodystrophy of unknown cause. Post‐mortem examination showed an unusual vacuolar appearance of the brain. A mo...

Descripción completa

Detalles Bibliográficos
Autores principales: Sitaram, Spatikha, Banka, Hetalika C., Vassallo, Grace, Pavaine, Julija, Fairclough, Adele, Wright, Ronnie, Fairbanks, Lynette, Bierau, Jörgen, Bowden, Lydia, Schwahn, Bernd, Horman, Alistair, Banka, Siddharth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10091700/
https://www.ncbi.nlm.nih.gov/pubmed/36271826
http://dx.doi.org/10.1002/ajmg.a.62999

Ejemplares similares

Ejemplares similares