Alpers syndrome with prominent white matter changes

スポンサーリンク

概要

論文の詳細を見る
2008-04-01

著者

関連論文

Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome
Clinical and biochemical studies on Chinese patients with methylmalonic acidumia
Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening
First prenatal exclusion of cystic fibrosis in East Asia
Cerebrotendinous xanthomatosis with a compound heterozygote mutation and severe polyneuropathy
Genetic studies on SURF1 mutations in Chinese patients with mitochondrial encephalopathy
A Clinical Survey of 65 Patients with Leigh Syndrome
Modulating effect of hydrogen sulfide on gamma-aminobutyric acid B receptor in recurrent febrile seizures in rats
Current Status of Research on Inborn Errors of Metabolism in China
Phenylketonuria in China : From Neonatal Screening to Laboratory Study
A study on epileptic negative myoclonus in atypical benign partial epilepsy of childhood
SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus
Alpers syndrome with prominent white matter changes
The effects of antiepileptic drugs on spatial learning and hippocampal protein kinase C γin immature rats
Reduction expression of thrombomodulin and endothelial cell nitric oxide synthase in dermatomyositis
Midodrine Hydrochloride Is Effective in the Treatment of Children With Postural Orthostatic Tachycardia Syndrome
Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease
P2-55 Effect of NT-3 on the expression of c-jun in the rat primary cortical neurons after hypoxia in vitro
The overlap of corticobasal degeneration and Alzheimer changes : An autopsy case
Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A
Clincial and pathological study of distal motor neuropathy with N88S mutation in BSCL2
Hereditary sensory and autonomic neuropathy type I in a Chinese family : British C133W mutation exists in the Chinese
Childhood absence epilepsy : Elctroclinical features and diagnostic criteria
Mitochondrial DNA variant interactions modify breast cancer risk
Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis
Mutations in mitochondrially encoded complex I enzyme as the second common cause in a cohort of Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bε (eIF2Bε) identified in Chinese patients with vanishing white matter disease
Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome
Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC)
Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease
Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay
Epilepsy in children with methylmalonic acidemia : Electroclinical features and prognosis
Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations
Increased Expression of Netrin-1 and Its Deleted in Colorectal Cancer Receptor in Human Diseased Lumbar Intervertebral Disc Compared With Autopsy Control

もっと見る

スポンサーリンク