Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).
Tarekegn GeberhiwotMelissa WassersteinSubadra WanninayakeShaun Christopher BoltonAndrea DardisAnna LehmanOlivier LidoveCharlotte DawsonRoberto GiuglianiJackie ImrieJustin HopkinJames GreenDaniel de Vicente CorbeiraShyam MadathilEugen MengelFatih EzgüMagali PettazzoniBarbara SjoukeCarla HollakMarie T VanierMargaret McGovernEdward SchuchmanPublished in: Orphanet journal of rare diseases (2023)
These guidelines can inform care providers, care funders, patients and their carers about best clinical practice and leads to a step change in the quality of care for patients with ASMD with or without enzyme replacement therapy (ERT).