Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
about
The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infantsaldh7a1 regulates eye and limb development in zebrafish.Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.Genetic and biologic classification of infantile spasms.Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option.Vitamin-responsive epileptic encephalopathies in children.Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy.Impact of disease-Linked mutations targeting the oligomerization interfaces of aldehyde dehydrogenase 7A1.Long-term treatment outcome of two patients with pyridoxine-dependent epilepsy caused by ALDH7A1 mutations: normal neurocognitive outcome.Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency.Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort.Pyridoxine-dependent epilepsy: report on three families with neuropathology.A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder.Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy.Metabolic etiologies in West syndrome.The genetic landscape of infantile spasms
P2860
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P2860
Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
description
2008 nî lūn-bûn
@nan
2008 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Prevalence of ALDH7A1 mutation ...... endent seizure (PDS) patients.
@ast
Prevalence of ALDH7A1 mutation ...... endent seizure (PDS) patients.
@en
Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure
@nl
type
label
Prevalence of ALDH7A1 mutation ...... endent seizure (PDS) patients.
@ast
Prevalence of ALDH7A1 mutation ...... endent seizure (PDS) patients.
@en
Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure
@nl
prefLabel
Prevalence of ALDH7A1 mutation ...... endent seizure (PDS) patients.
@ast
Prevalence of ALDH7A1 mutation ...... endent seizure (PDS) patients.
@en
Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure
@nl
P2093
P2860
P1433
P1476
Prevalence of ALDH7A1 mutation ...... endent seizure (PDS) patients.
@en
P2093
Craig L Bennett
Ian A Glass
Sidney M Gospe
Sihoun Hahn
Yingzhang Chen
P2860
P304
P356
10.1111/J.1528-1167.2008.01816.X
P577
2008-10-14T00:00:00Z