Exemplifying a measurement validation strategy for rare- and ultra-rare diseases: Measuring what matters in alpha-mannosidosis

Molecular Genetics and Metabolism 2026

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Authors: Carolyn Emily Schwartz, Katrina Borowiec, Barbara K. Burton, Robert James Hopkin, Heather Morgan, Irene N. Koulinska, Bruce David Rapkin

DOI: 10.1016/j.ymgme.2025.109612

Cited by: 0

Fields of Study & Subjects

Lysosomal Storage Disorders Research Glycogen Storage Diseases and Myoclonus Metabolism and Genetic Disorders