Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency.

Gerarda MastrogiorgioMarina MacchiaioloPaola Sabrina BuonuomoEmanuele BellacchioMatteo BordiDavide VecchioKari Payne BrownNatalie Karen WatsonBenedetta ContardiFrancesco CecconiMarco TartagliaAndrea Bartuli

Published in: Orphanet journal of rare diseases (2021)

The study adds more details on the spectrum of ADSLD patients' phenotypes and molecular data.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
prognostic factors
peritoneal dialysis
big data
machine learning
patient reported outcomes
single molecule
data analysis