article_metadata: 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
article_metadata: 10.1002/ajmg.a.62999
article_metadata: Am J Med Genet A
article_metadata: 2023 Jan;191(1):234-237.
article_metadata: adenylosuccinate lyase molecular autopsy reverse phenotyping
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/36271826/
article_metadata: Adenylosuccinate Lyase / genetics Autistic Disorder Purine-Pyrimidine Metabolism, Inborn Errors / genetics
article_metadata: Adenylosuccinate Lyase / genetics Autistic Disorder Purine-Pyrimidine Metabolism, Inborn Errors / genetics Case Reports Autopsy Child Humans Infant Infant, Newborn Adenylosuccinate Lyase Adenylosuccinate lyase deficiency
article_metadata: PMC10091700
article_metadata: 36271826
article_metadata: Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy
article_metadata: 2023