Spatikha Sitaram Hetalika C Banka Grace Vassallo Julija Pavaine Adele Fairclough Ronnie Wright Lynette Fairbanks Jörgen Bierau Lydia Bowden Bernd Schwahn Alistair Horman Siddharth Banka
10.1002/ajmg.a.62999
Am J Med Genet A
2023 Jan;191(1):234-237.
adenylosuccinate lyase molecular autopsy reverse phenotyping
CC BY
https://pubmed.ncbi.nlm.nih.gov/36271826/
Adenylosuccinate Lyase / genetics Autistic Disorder Purine-Pyrimidine Metabolism, Inborn Errors / genetics
Adenylosuccinate Lyase / genetics Autistic Disorder Purine-Pyrimidine Metabolism, Inborn Errors / genetics Case Reports Autopsy Child Humans Infant Infant, Newborn Adenylosuccinate Lyase Adenylosuccinate lyase deficiency
PMC10091700
36271826
Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy
2023