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Heredopathia Atactica Polyneuriformis an Inborn Error of Lipid Metabolism
Clinical Biochemical and Ultrastructural
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3-hydroxyanthranilic acid 3-hydroxykynurenine abnormal anticonvulsant antiepileptic ataxia biochemical biopsy brain damage carbamazepine carriers cerebral palsy changes child children suffering clinical Czechoslovakia decreased defect dermal ridges developmental diagnosis diplegia disease disorders disturbances drugs dystrophy effect epileptic examination excretion Faustan findings fits focal foci frequency frontal handicapped hemiparesis heredopathia atactica polyneuritiformis increased infants investigation kynureninase kynureninase activity late infantile lesion leucodystrophy mental metabolic method muscular myoclonic epilepsy Neurol neurological newborn Nitrazepam normal observed occipital occurred palmar grasp pathological patients patterns Pediatrics perinatal pes cavus phenobarbital phytanic acid Prague primidon psychomotor pyridoxine pyridoxine deficiency RADEDORM Refsum's Disease retarded seizures showed side significant signs sinuses skin reflexes skull sleep slow wave spasms speech spikes sutural bones symptoms syndrome Tetraplegics therapy treatment tryptophan tryptophan load test tumors vestibular Wilson's disease yr yr yr