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45 results on '"Kraegeloh A"'

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1. Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy

10. Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome

22. Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

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