The natural history of classic galactosemia: lessons from the GalNet registry.

M Estela Rubio-GozalboM HaskovicA M BoschB BurnyteA I CoelhoD CassimanM L CouceC DawsonD DemirbasT DerksF EyskensM T ForgaS GrunewaldJ HäberleM HochuliA HubertH H HuidekoperP JaneiroJ KotzkaI KnerrP LabruneY E LandauJ G LangendonkD MöslingerD Müller-WielandE MurphyK ÕunapD RamadzaI A RiveraS Scholl-BuergiK M StepienA ThijsC TranR VaraG VisserR VosM de VriesS E WaisbrenM M Welsink-KarssiesS B WortmannM GautschiE P TreacyG T Berry

Published in: Orphanet journal of rare diseases (2019)

This study describes the natural history of classic galactosemia based on the hitherto largest data set.

Keyphrases

electronic health record
machine learning
artificial intelligence