A global neuronopathic gaucher disease registry (GARDIAN): a patient-led initiative.

Tanya Collin-HistedMadeline StoodleyKathleen Beusterien Deborah ElsteinDena H JaffeShoshana Revel-VilkElin Haf Daviesnull null

Published in: Orphanet journal of rare diseases (2023)

The comprehensive set of clinical and patient relevant outcomes data, developed collaboratively among all stakeholders, to be reported using GARDIAN will bridge the many gaps in the understanding of nGD and align with regulatory frameworks on real-world data needs.

Keyphrases

case report
electronic health record
big data
transcription factor
machine learning
skeletal muscle
glycemic control
smoking cessation