A 1-year-old infant with McArdle disease associated with hyper-creatine kinase-emia during febrile episodes
スポンサーリンク
概要
- 論文の詳細を見る
- 2003-09-01
著者
-
ITO Yasushi
Department of Neurosurgery, Brain Research Institute, Niigata University
-
Osawa Makiko
Department of Pediatrics, Tokyo Women's Medical University
-
Suzuki Haruko
Department Of Pediatrics Tokyo Women's Medical University School Of Medicine
-
HAYASHI Kitami
Department of Pediatrics, Tokyo Women's Medical University
-
SAITO Kayoko
Department of Pediatrics, Tokyo Women's Medical University
-
Oosawa Makiko
Department Of Pediatrics Tokyo Women's Medical University
-
SUGIE HIDEO
Department of Pediatric Neurology, Hamamatsu City Medical Center for Developmental Medicine
-
FUKUDA TOKIKO
Department of Pediatric Neurology, Hamamatsu City Medical Center for Developmental Medicine
-
ITO MASATAKA
Department of Pediatric Neurology, Hamamatsu City Medical Center for Developmental Medicine
-
SHISHIKURA Keiko
Department of Pediatrics, Tokyo Women's Medical University, School of Medicine
-
YAZAKI Eriko
Department of Pediatrics, Tokyo Women's Medical University, School of Medicine
-
Ito Yasushi
Department Of Pediatrics Tokyo Women's Medical University
-
Saito Kayoko
Tokyo Women's Medical University School Of Medicine Department Of Pediatrics
-
Saito Kayoko
Department Of Pediatrics Tokyo Women's Medical University School Of Medicine
-
Shishikura Keiko
Department Of Pediatrics Tokyo Women's Medical University School Of Medicine
-
Ito Yasushi
Tokyo Women's Medical University School Of Medicine Department Of Pediatrics
-
Ito Yasushi
Department Of Neurosurgery Brain Research Institute University Of Niigata
-
Saito Kayoko
Department Of Neuropsychiatry School Of Medicine Hirosaki University
-
Sugie Hideo
Department Of Pediatric Neurology Hamamatsu City Medical Center For Developmental Medicine
-
Yazaki Eriko
Department Of Pediatrics Tokyo Women's Medical University School Of Medicine
-
Ito Masataka
Department Of Applied Physics Faculty Of Science Tokyo University Of Education
-
Ito Masataka
Department Of Pediatric Neurology Hamamatsu City Medical Center For Developmental Medicine
-
Fukuda Tokiko
Department Of Pediatric Neurology Hamamatsu City Medical Center For Developmental Medicine
-
Hayashi Kitami
Department Of Pediatrics Tokyo Woman's Medical University
-
Hayashi Kitami
Department Of Pediatrics Tokyo Women's Medical University School Of Medicine
-
Osawa Makiko
Department Of Pediatrics Tokyo Woman's Medical University
-
Osawa Makiko
Department Of Pediatrics Faculty Of Medicine Tokyo Women's Medical University
-
Ito Yasushi
Department Of Biological Diversity Faculty Of Agriculture Gifu University
-
Ito Yasushi
Department Of Biofunctional Molecules Gifu Pharmaceutical University
-
Osawa Makiko
Department of Pediatrics, School of Medicine, Tokyo Women's Medical University
-
HAYASHI Kitami
Department of Pediatrics and Pediatric Intensive Care Medicine, Tokyo Women's Medical University Yachiyo Medical Center
-
ITO Yasushi
Department of Applied Chemisty, Faculty of Technology, Tokyo University of Agriculture and Technology
関連論文
- A Case of a Type 1 Diabetes Child with a Type 1 Diabetic Mother
- Retrograde Perfusion of the Cerebral Vein with Antioxidant L Y231617 Reduces Brain Damage in the Rat Focal Ischemia Model
- Synthesis, Structure, and Reactions of 10-Sn-5 Organotin Ate Complexes
- A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions
- Mutations of Neuronal Voltage-gated Na^+ Channel α1 Subunit Gene SCN1A in Core Severe Myoclonic Epilepsy in Infancy (SMEI) and in Borderline SMEI (SMEB)
- Mutation screening of AP3M2 in Japanese epilepsy patients
- Genetics of Idiopathic Epilepsies
- The genetics of febrile seizures and related epilepsy syndromes
- IV D6 How SCN1A mutations contribute to Dravet syndrome : a comparison of clinical and EEG features between Dravet syndrome with and without SCN1A mutations
- Genetics of epilepsy : current status and perspectives
- Molecular Genetics of Human Familial Epilepsy Syndromes
- Genetic abnormalities underlying familial epilepsy syndromes
- Electroclinical Picture of Autosomal Dominant Nocturnal Frontal Lobe Epilepsy in a Japanese Family
- PJ-442 Fukutin Gene Mutations Cause Dilated Cardiomyopathy with Minimal Muscle Weakness(Cardiomyopathy, basic/clinical-6, The 71st Annual Scientific Meeting of the Japanese Circulation Society)
- Evidence for Increased Sympatho-adrenomedullary Activity in Young Subjects with Borderline Hypertension : THE 17th CONFERENCE ON THE PATHOGENESIS OF HYPERTENSION
- THE EFFECT OF TAURINE LOADING ON THE RESPONSIVENESS OF PLASMA EPINEPHRINE TO THE INFUSION OF GLUCAGON IN YOUNG PATIENTS WITH BORDERLINE HYPERTENSION : Hypertension (II) : FREE COMMUNICATIONS (II) : PROCEEDINGS OF THE 49th ANNUAL SCIENTIFIC MEETING OF THE
- Salt-Sensitivity in Borderline Hypertension : THE 13TH CONFERENCE ON THE PATHOGENESIS OF HYPERTENSION
- Wisconsin card sorting test in children with temporal lobe epilepsy
- IV D7 Reciprocal release profile between hippocampal monoamines and acetylcholine releases in a novel spontaneous epilepsy model, mu3B deficient mice
- NS-5 Behavioral and electroencephalographical analysis of epileptogenesis in μ3B knockout mouse
- NS-4 Epileptic seizure in mice deficient in μ3B subunit of AP-3B complex
- Rasmussen Syndrome : Multifocal Spread of Inflammation Suggested from MRI and PET Findings
- Co-localization of β-peptide and phosphorylated tau in astrocytes in a patient with corticobasal degeneration
- Agranulocytosis following phenytoin-induced hypersensitivity syndrome
- Modified Atkins diet therapy for a case with glucose transporter type 1 deficiency syndrome
- Focal epileptic spasms, involving one leg, manifesting during the clinical course of west syndrome (WS)
- Hypothalamic Hamartoma Associated With Anterior Paraclinoid Aneurysm of the Internal Carotid Artery : Case Report
- Extremely low-dose ACTH step-up protocol for West syndrome : Maximum therapeutic effect with minimal side effects
- Clinical presentation, EEG studies, and novel mutations in two cases of GLUT1 deficiency syndrome in Japan
- Zonisamide for West syndrome : a comparison of clinical responses among different titration rate
- Effect of ACTH Therapy for Epileptic Spasms without Hypsarrhythmia
- EEG in Children with Early-onset Benign Occipital Seizure Susceptibility Syndrome : Panayiotopoulos Syndrome
- III C2 Epilepsia partialis continua : treatment strategies
- Clinical and EEG analysis of initial status epilipticus during infancy in patients with mesial temporal lobe epilepsy
- Myoclonic-astatic epilepsy of early childhood - clinical and EEG analysis of myoclonic-astatic seizures, and discussions on the nosology of the syndrome
- Severe myoclonic epilepsy in infants - a review based on the Tokyo Women's Medical University series of 84 cases
- Acquired epileptiform opercular syndrome: a case report and results of single photon emission computed tomography and computer-assisted electroencephalographic analysis
- A Study of the Effect of Color Photostimulation from a Cathode-rat Tube (CRT) Display on Photosensitive Patients : The Effect of Alternating Red-Cyan Flicker Stimulation
- Surgical Indication for Refractory Childhood Epilepsy
- Clinicopathological study on eyes from cases of Fukuyama type congenital muscular dystrophy
- Hyperactivity of Endoplasmic Reticulum Associated Exocytosis Mechanism Contributes to Acute Phencyclidine Intoxication
- IV F3 Effects of carbamazepine on cAMP-dependent protein kinase related exocytosis
- II F16 A case of familial paroxysmal hypnogenic dyskinesia and sick sinus syndrome with severe abnormality of potassium-conductance in peripheral nerve
- II C22 Two-dimensional monitoring of effects of carbamazepine on propagation of neuronal excitability using multiple-electrode dish with high-speed fluorescence CCD system.
- Impaired M-Current and Neuronal Excitability
- Genetic Identifiers of Epilepsy
- Different patterns of dipole source localization in gelastic seizure with or without a sense of mirth
- Sociomedical aspects of epileptic patients : Their employment and marital status
- Prognosis and clinical features of intractable epilepsy : A prospective study
- Congenital form of glycogen storage disease type IV : A case report and a review of the literature
- Study on surgical treatment of intractable childhood epilepsy
- Atonic Epileptic Drop Attacks Associated with Generalized Spike-and-Slow Wave Complexes: Video-Polygraphic Study in Two Patients
- Long*Term Prognosis of Lennox-Gastaut Syndrome
- Neuropsychological study of localization-related epilepsy in children
- Pial-glial barrier abnormalities in fetuses with Fukuyama congenital muscular dystrophy
- Fukuyama congenital muscular dystrophy: Cortical dysplasia of the cerebrum in a 20 week fetus
- Benefits of FK 506 for refractory eye symptoms in a young child with ocular myasthenia gravis
- Pathological study of bronchospasms/tracheomalasia in patients with severe motor and intellectual disabilities
- Thalamic lesions in a long-surviving child with spinal muscular atrophy type I : MRI and EEG findings
- A 1-year-old infant with McArdle disease associated with hyper-creatine kinase-emia during febrile episodes
- Study on Photo-Pattern Sensitivity in Patients with Electronic Screen Game : Induced Seizures (ESGS): Effects of Spatial Resolution, Brightness, and Pattern Movement
- Familial antiphospholipid antibody in a child with involuntary movement and deterioration
- THE EFFECT OF SODIUM AND POTASSIUM LOADING ON URINARY KALLIKREIN-LIKE ACTIVITY IN YOUNG PATIENTS WITH BORDERLINE HYPERTENSION
- Long-Term Follow Up of Patients With Good Outcome After Intra-arterial Thrombolysis for Major Arterial Occlusion in the Carotid Territory : Clinical and Magnetic Resonance Imaging Evaluation
- Thin-Section Diffusion-Weighted Imaging of the Infratentorium in Patients With Acute Cerebral Ischemia Without Apparent Lesion on Conventional Diffusion-Weighted Imaging
- TRH therapy in a patient with juvenile Alexander disease
- Autonomic dysfunction in cases of spinal muscular atrophy type 1 with long survival
- Electrophysiological study of myoclonic seizures in children
- Creatine monohydrate therapy in a Leigh syndrome patient with A8344G mutation
- Beta-Blocker Therapy for Cardiac Dysfunction in Patients With Muscular Dystrophy
- Long-term effect of flunarizine on patients with alternating hemiplegia of childhood in Japan
- Discharge diagnoses in infants with apparent life-threatening event
- Ampullary somatostatinoma in a patient with von Recklinghausen's disease
- A comparative study of high-dose and low-dose ACTH therapy for West syndrome
- Study on the Early-Onset Variant of Benign Childhood Epilepsy with Occipital Paroxysms Otherwise Described as Early-Onset Benign Occipital Seizure Susceptibility Syndrome
- Startle Epilepsy with Infantile Hemiplegia: Report of Two Cases Improved by Surgery
- Surgical Treatment of Hemangioblastomas With Presurgical Endovascular Embolization
- Activity of neurons in ventrolateral respiratory groups during swallowing in decerebrate rats
- Polymorphism analysis of Fukuyama type congenital muscular dystrophy(FCMD) siblings with different phenotypes
- Distribution of glycoconjugates in the colon carcinoma cells during the process of liver metastasis
- DBA-staining Pattern of Stimulated Human Gastric Parietal Cells : A Microspectrophotometric Study
- Light and Electron Microscopic Study of Lectin Binding Sites in Human Esophageal Epithelia
- Lig-8, a Bioactive Lignophenol Derivative From Bamboo Lignin, Protects Against Neuronal Damage In Vitro and In Vivo
- Bibliography of congenital muscular dystrophies : Series V (2001)
- Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications
- Two-step consumption of yolk granules during the development of quail embryos
- Simultaneous Propagation of Ion Acoustic Wave and Ion Ballistic Wave
- Experiments on Ion Ballistic Wave Echoes
- Benign Familial Infantile Convulsions : Linkage to Chromosome 16p12-q12 in 14 Families
- Muscle CT scans in preclinical cases of Duchenne and Becker muscular dystrophy
- Effect of medical treatments on psychiatric symptoms in children with anorexia nervosa
- Vitellogenin Transport and Yolk Formation in the Quail Ovary(Developmental Biology)
- Positive association between benign familial infantile convulsions and LGI4
- Nationwide survey (incidence, clinical course, prognosis) of Rasmussen's encephalitis
- Fukutin expression in mouse non-muscle somatic organs : its relationship to the hypoglycosylation of α-dystroglycan in Fukuyama-type congenital muscular dystrophy
- Absorption, transportation and digestion of egg white in quail embryos
- Unstable Stenosis of the Internal Carotid Artery Caused by a Craniofacial Nail-Gun Injury : Case Report
- New insights into the pathogenesis of spinal muscular atrophy
- Intra-aneurysmal Coil Embolization for Large or Giant Carotid Artery Aneurysms in the Cavernous Sinus
- Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies