The First Metabolome Analysis in Children with Epilepsy and ALG13-CDG Resulting from c.320A>G Variant.

Justyna Paprocka Aleksandra Jezela-Stanek Łukasz Boguszewicz Maria Sokół Patryk LipińskiEwa JamrozEwa Emich-WideraAnna Tylki-Szymańska

Published in: Children (Basel, Switzerland) (2021)

Since presented data are the first to be collected so far, they need be verified in further studies. Our intention was to turn attention toward possible CDG-ALG13 laboratory markers that would have clinical significance.

Keyphrases

young adults
working memory
electronic health record
big data
sensitive detection
fluorescent probe
case control
artificial intelligence
deep learning