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Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels
Pyridoxine dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde dehydrogenase levels
Table e-3: Genetic data of A-T patients with mild phenotypes from the Dutch cohort and literature.
Table e-1: Clinical and laboratory data of 105 A-T patients with mild phenotypes from the Dutch cohort and literature.
Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations