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2. Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource

4. Expanded phenotype of AARS1-related white matter disease

7. Brain pathology and cerebellar purkinje cell loss in a mouse model of chronic neuronopathic Gaucher disease

12. Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation

16. Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy

18. The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat

20. Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference

25. Disease specific therapies in leukodystrophies and leukoencephalopathies

28. O18: A path forward for patients with glycogen branching enzyme deficiency: Consensus on diagnosing and managing glycogen storage disease type IV*

30. List of Contributors

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