Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine
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The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1Neonatal pyridoxine responsive convulsions due to isoniazid therapyClinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infantsGlial localization of antiquitin: implications for pyridoxine-dependent epilepsyNeurologically handicapped children. The role of the pediatrician in rehabilitation.Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31Seizures caused by pyridoxine (vitamin B6) deficiency in adults: A case report and literature review.Pyridoxol metabolism in vitamin B6-responsive convulsions of early infancyPyridoxine dependent seizures--a wider clinical spectrum.Nutritional excess in infancy and childhoodDiscussion of the changing values in electroencephalography.Pyridoxine-dependent convulsions in an infant.HYDROXYKYNURENINURIA: A CASE OF ABNORMAL TRYPTOPHAN METABOLISM PROBABLY DUE TO A DEFICIENCY OF KYNURENINASECystathioninuria from pyridoxine deficiency complicating treatment of hypercalcaemia in a cretinMetabolism of tryptophan in childhood epilepsyFamilial intrauterine convulsions in pyridoxine dependencyEffect of treatment on the metabolism of tryptophan in childhood epilepsy.Treatment of homocystinuria with pyridoxine. A preliminary study.Partial Pyridoxine Responsiveness in PNPO Deficiency.Pyridoxine-dependent convulsions among children with refractory seizures: A 3-year follow-up study.Lysine metabolism in mammalian brain: an update on the importance of recent discoveries.Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6.Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches.Neglected atypical pyridoxine dependent seizures.Excitatory Dentate Granule Cells Normally Contain GAD and GABA, but Does That Make Them GABAergic, and Do Seizures Shift Granule Cell Function in the Inhibitory Direction?The measurement of urinary Δ¹-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency.Vitamin-responsive epileptic encephalopathies in children.Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by ALDH7A1 genetic defect.Excitation and inhibition in epilepsy.Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology.Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency.Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes.Metabolic etiologies in West syndrome.
P2860
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P2860
Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine
description
im Februar 1954 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 01 February 1954
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в лютому 1954
@uk
name
Pyridoxine dependency: report ...... nfant controlled by pyridoxine
@en
Pyridoxine dependency: report ...... nfant controlled by pyridoxine
@nl
type
label
Pyridoxine dependency: report ...... nfant controlled by pyridoxine
@en
Pyridoxine dependency: report ...... nfant controlled by pyridoxine
@nl
prefLabel
Pyridoxine dependency: report ...... nfant controlled by pyridoxine
@en
Pyridoxine dependency: report ...... nfant controlled by pyridoxine
@nl
P2093
P1433
P1476
Pyridoxine dependency: report ...... nfant controlled by pyridoxine
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P2093
P304
P407
P577
1954-02-01T00:00:00Z