MR imaging and ^1H-MR spectroscopy of a case of van der Knaap disease
スポンサーリンク
概要
- 論文の詳細を見る
- 2006-08-01
著者
-
TSUJINO Seiichi
Department of Inherited Metabolic Disease, National Institute of Neuroscience, NCNP
-
Takahashi Yukitoshi
Department of Pediatrics, Gifu University School of Medicine
-
IMAMURA Atsushi
Department of Pediatrics, Gifu University School of Medicine
-
OMOYA Kentaro
Department of Pediatrics, Graduate School of Medicine, Gifu University
-
TATEBAYASHI Koji
Department of Pediatrics, Graduate School of Medicine, Gifu University
-
Matsuo Naoki
Department Of Pediatrics Gifu Prefectral Gifu Hospital
-
MORITA HIDEYUKI
Department of Micro System Engineering, Nagoya University
-
Takahashi Yukitoshi
Department Of Pediatrics National Epilepsy Center Shizuoka Institute Of Epilepsy And Neurological Di
-
Takahashi Yukitoshi
Department Of Information And Computer Science Kagoshima University
-
Tsujino Seiichi
Department Of Inherited Metabolic Disease National Institute Of Neuroscience National Center Of Neur
-
Imamura Atsushi
Department Of Pediatrics Gifu Prefectral Gifu Hospital
-
Omoya Kentaro
Department Of Pediatrics Graduate School Of Medicine Gifu University
-
Omoya Kentaro
Department Of Pediatrics National Hospital Organization Toyohashi Higashi National Hospital
-
Morita Hideyuki
Department Of Pediatrics Gifu Prefectral Gifu Hospital
-
Morita Hideyuki
Department Of Micro System Engineering Nagoya University
-
Matsuo Naoki
Department Of Pediatrics Gifu Prefectural Gifu Hospital
-
Tsujino Seiichi
Department Of Inherited Metabolic Disease National Institute Of Neuroscience National Center Of Neur
-
Tatebayashi Koji
Department Of Pediatrics National Hospital Organization Toyohashi Higashi National Hospital
-
Tatebayashi Koji
Department Of Pediatrics Graduate School Of Medicine Gifu University
-
Tatebayashi Koji
Department Of Neonatology Gifu Prefectural Gifu Hospital
-
Takahashi Yukitoshi
Department of Clinical Research, National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders
-
MATSUO Naoki
Department of Civil Engineering, Chubu University
関連論文
- A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome
- Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis : a common mutation, R179X
- III C1 Probable molecular dysfunction by autoantibodies against NMDA receptor GluRe2 in epilepsies after acute encephalitis
- Epileptic seizures and structural abnormalities in a patient with holoprosencephaly
- The clinical course of childhood and adolescent adrenoleukodystrophy before and after Lorenzo's oil
- Restoration of biochemical function of the peroxisome in the temperature-sensitive mild forms of peroxisome biogenesis disorder in humans
- Epilepsy in Peroxisomal Diseases
- Trial of docosahexaenoic acid supplementation on a Japanese patient with a peroxisome biogenesis defect
- Development of Fluorescence-linked Immunosorbent Assay for High Throughput Screening of Interferon-γ
- Genetic defects in downregulation of IgE production and a new genetic classification of atopy
- An infantile/juvenile form of Alexander disease caused by a R79H mutation in GFAP
- Micro resonator for a tactile display
- Structural and biochemical studies on Pompe disease and a "pseudodeficiency of acid α-glucosidase"
- A case of acute encephalitis with refractory, repetitive partial seizures, presenting autoantibody to glutamate receptor Gluε2
- MR imaging and ^1H-MR spectroscopy of a case of van der Knaap disease
- A common mutation and a novel mutation in Japanese patients with van der Knaap disease
- A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease) : molecular genetic study
- Molecular genetic study in Japanese patients with Alexander disease : a novel mutation, R79L
- Diagnosis of Alexander disease in a Japanese patient by molecular genetic analysis
- Reflex Seizures in Patients with Malformations of Cortical Development and Refractory Epilepsy
- Infrarenal Abdominal Aortic Aneurysm Complicated by Persistent Endotension After Endovascular Repair : Report of a Case
- A case of acute cerebellitis accompanied by autoantibodies against glutamate receptor δ2
- AMELIORATION OF PROLIDASE DEFICIENCY IN FIBROBLASTS USING ADENOVIRUS MEDIATED GENE TRANSFER
- Effect of Deep Tillage on Growth and Yield of Rice Cultivars Grown under Water Deficit
- A case of infantile Alexander disease with a milder phenotype and a novel GFAP mutation, L90P
- Expression patterns of Arabidopsis ERF VIII-b subgroup genes during in vitro shoot regeneration and effects of their overexpression on shoot regeneration efficiency
- Human Face Extraction and Recognition Using Radial Basis Function Networks
- MR imaging and ^1H-MR spectroscopy in a case of juvenile Alexander disease
- ^1H-Magnetic resonance spectroscopy in a case of Moyamoya disease with revascularization surgery
- MR imaging and ^1H-MR spectroscopy in a case of cerebral infarction with transient cerebral arteriopathy
- Serial MR imaging and ^1H-MR spectroscopy of unidentified bright objects in a case of neurofibromatosis type 1
- Very Early Universe Based on Closed Superstring Theories
- 動脈管再開通を認めた極低出生体重児の臨床像
- Bacterial meningitis and septicemia of neonate due to Lactococcus lactis
- Detection of DNA of six human herpesviruses in the cerebrospinal fluid of immunocompetent non-herpetic acute limbic encephalitis patients
- Biochemical and structural study on a S529V mutant acid α-glucosidase responsive to pharmacological chaperones
- Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation
- Influence of Concomitant Antiepileptic Drugs on Plasma Lamotrigine Concentration in Adult Japanese Epilepsy Patients
- Focal encephalopathy with recurrent episodes of epileptic status and cluster mimicking hemiconvulsion-hemiplegia-epilepsy syndrome
- Successful Radiofrequency Catheter Ablation of Left Anterolateral Accessory Pathway Associated with a Coronary Sinus Diverticulum Using an Irrigated-Tip Catheter
- Selective pontine hypoplasia : A possible common feature in 5p monosomy syndrome
- Improvement of Water Quality in Semi-Enclosed Coastal Sea Using Thermal Discharge of Existing Power Plant
- Ophthalmoplegia and Flaccid Paraplegia in a Patient with Anti-NMDA Receptor Encephalitis: A Case Report and Literature Review
- Evaluation of serum cytokine levels in toxic epidermal necrolysis and Stevens-Johnson syndrome compared with other delayed-type adverse drug reactions