Understanding the patient experience of Classic Galactosemia in pediatric and adult patients: increased disease burden, challenges with daily living, and how they evolve over time

• Main Authors: Jason A. Randall (Author), Carolyn Sutter (Author), Lydia Raither (Author), Stella Wang (Author), Evan Bailey (Author), Riccardo Perfetti (Author), Shoshana Shendelman (Author), Claire Burbridge (Author)
• Format: Knjiga
• Izdano: SpringerOpen, 2023-09-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

Abstract Background Classic Galactosemia (CG) is a rare, autosomal recessive condition. Newborn screening and a timely galactose-restricted diet can resolve acute symptoms and decrease fatalities, but significant chronic, progressive morbidities remain and significantly impact daily life. The object...