Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.
about
The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1Early-onset epileptic encephalopathies and the diagnostic approach to underlying causesPartial Pyridoxine Responsiveness in PNPO Deficiency.Normal Neurodevelopmental Outcomes in PNPO Deficiency: A Case Series and Literature Review.PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.Neonatal neuroimaging findings in inborn errors of metabolism.Pyridoxine responsiveness in novel mutations of the PNPO gene.Epilepsy in children--when should we think neurometabolic disease?Inborn errors of metabolism causing epilepsy.Clinical management of seizures in newborns : diagnosis and treatment.Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment.Pyridox(am)ine-5-Phosphate Oxidase Deficiency Treatable Cause of Neonatal Epileptic Encephalopathy With Burst Suppression: Case Report and Review of the Literature.Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation.Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches.Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy.Vitamin-responsive epileptic encephalopathies in children.Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy.Cirrhosis associated with pyridoxal 5'-phosphate treatment of pyridoxamine 5'-phosphate oxidase deficiency.Recent insights into pre- and postnatal pyridoxal phosphate deficiency, a treatable metabolic encephalopathy.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.Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency.
P2860
Q24616654-AAF0684B-D14D-4051-BCE2-5441AE61037FQ26773828-8387410C-B81B-4F39-8440-CBB1E6D82114Q36591002-1FF0CBEB-949B-4F72-8569-40EC04CDA036Q36894712-61F3FD01-752D-489A-8C3E-5FB089520711Q37329279-C9ED986D-8858-4A19-A9CE-597149CC9F4AQ37356251-3FE78E88-10AE-471C-9280-115F906CEC70Q37724335-EC7425CE-D765-4BF8-A67B-DF165FDC9BDBQ37725884-08E85573-7BBC-47CC-B7D3-434163349FA7Q37989420-AD3B0AA1-EC4B-41B5-BE6A-8C7C071D9F03Q38045430-9E75D874-EE7B-44C2-B8B2-48C8C07BFACCQ38075488-A1540B6F-CAE4-4B81-9F06-1487B2C49304Q38165237-313EFC53-C643-4B16-905B-A4E5D548B9AAQ38258213-04ED4B26-F4A0-4291-89DA-58BC112BCE51Q38961582-D9DE73A1-B242-402A-8271-55092700F7E2Q39411002-0BE3AE40-F4C2-4AF0-B9A9-7CA85F4A22ABQ41436878-E0F04887-D454-4CE8-AF0C-1D97EB459819Q41890382-0DC13198-4F96-465E-BB2C-4BF159C3CC06Q42058235-4A8955B0-EF88-4CAF-8586-B9997C61FFAEQ42123846-33BEB02F-0F4C-40E5-8BC1-5F3279A74536Q43002242-2488E5D4-6517-4A41-8C1C-D7F891BF257BQ47164777-FA431D97-4636-4EE9-8F3F-07A393AE1F5AQ47410011-8B9F70F9-F0FB-4F1F-BBE2-4467C0AB4A6FQ47677031-27EB2D20-E53E-4BC6-897D-A981623F1AE1
P2860
Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
2010年论文
@zh
2010年论文
@zh-cn
name
Seizures and paroxysmal events ...... phosphate oxidase deficiency.
@en
type
label
Seizures and paroxysmal events ...... phosphate oxidase deficiency.
@en
prefLabel
Seizures and paroxysmal events ...... phosphate oxidase deficiency.
@en
P2093
P2860
P1476
Seizures and paroxysmal events ...... phosphate oxidase deficiency.
@en
P2093
Bernhard Schmitt
Cornelis Jakobs
Elmar Keller
Gabriele Wohlrab
Peter T Clayton
Philippa B Mills
P2860
P304
P356
10.1111/J.1469-8749.2010.03660.X
P577
2010-03-29T00:00:00Z