Delayed diagnosis and missed opportunities: Results from an analysis of the diagnostic journey for LOPD in the UK

Molecular Genetics and Metabolism 2026

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Authors: Patrick B. Deegan, Rand Dubis, Calum Grant, Laura Akroyd, Ben Leach, William J. Kerr, Vera Gielen, Robin Lachmann

DOI: 10.1016/j.ymgme.2025.109380

Cited by: 0

Fields of Study & Subjects

Metabolism and Genetic Disorders Lysosomal Storage Disorders Research Genomics and Rare Diseases