A boy with a severe phenotype of succinic semialdehyde dehydrogenase deficiency
スポンサーリンク
概要
- 論文の詳細を見る
- 2012-02-01
著者
-
Matsubara Tomoyo
Department Of Pediatrics And Reproductive Pediatric & Infection Science Yamaguchi University Sch
-
Obinata Kaoru
Department Of Pediatrics Juntendo University School Of Medicine
-
Hirose Shinichi
Department Of Biomolecular Engineering Graduate School Of Bioscience And Biotechnology Tokyo Institu
-
Okumura Akihisa
Department Of Pediatrics Anjo Kosei Hospital
-
Nakazawa Tomoyuki
Department Of Pediatrics Juntendo University School Of Medicine
-
Yamakawa Yoko
Department Of Pediatrics And Adolescent Medicine Juntendo University School Of Medicine
-
Shimizu Toshiaki
Department Of Microbiology And Immunology Shimane Medical University
-
Komatsu Mitsutaka
Department Of Pediatrics School Of Medicine Juntendo University
-
MATSUBARA Tomoyo
Department of Pediatrics, Juntendo University, Urayasu Hospital
-
ISHIDA Asuka
Department of Pediatrics, Juntendo University, Urayasu Hospital
-
SAITO Nobutomo
Department of Pediatrics, Juntendo University, Urayasu Hospital
-
OBINATA Kaoru
Department of Pediatrics, Juntendo University, Urayasu Hospital
-
NAKAZAWA Tomoyuki
Department of Pediatrics, Juntendo University, Urayasu Hospital
-
OKUMURA Akihisa
Department of Pediatrics, Juntendo University, School of Medicine
-
Okumura Akihisa
Department of Pediatrics and Adolescent Medicine, Juntendo University School of Medicine
-
YAMAKAWA Yoko
Department of Pediatrics, Juntendo University, Urayasu Hospital
関連論文
- Reperfusion Injury as a Complication Associated with Peripherally Inserted Central Catheters
- A Case of West Syndrome Associated with Neonatal Hypoglycemic Brain Injury
- Serum and urine Helicobacter pylori antibody titer after intravenous γ-globulin treatment for Kawasaki disease and its clearance
- 最近15年間に当科で経験した乳児脳腫瘍の予後と晩期障害
- 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
- Ictal Midline Epileptiform Discharges in Benign Familial Neonatal Convulsions
- Genetics of Idiopathic Epilepsies
- The genetics of febrile seizures and related epilepsy syndromes
- IV B13 Sodium channel genes in patients following febrile seizures plus
- Genetics of epilepsy : current status and perspectives
- Molecular Genetics of Human Familial Epilepsy Syndromes
- Electroclinical Picture of Autosomal Dominant Nocturnal Frontal Lobe Epilepsy in a Japanese Family
- The effectiveness of clonazepam on the Rolandic discharges
- Ictal EEG in patients with convulsions with mild gastroenteritis
- Genome-wide identification of febrile seizure and related epilepsy phenotype loci
- Safety from thromboembolism using intravenous immunoglobulin therapy in Kawasaki disease : Study of whole-blood viscosity
- 小児気管支喘息治療・管理ガイドラインに基づいた長期管理中の喘息発作についての検討
- Dexamethasone decreases cerebrospinal fluid soluble tumor necrosis factor receptor 1 levels in bacterial meningitis
- 新生児期の臨床的敗血症はアレルギー疾患発症の頻度を現象させる
- アトピー性皮膚炎における Staphylococcal enterotoxin 特異IgE抗体について
- Serum cytokine concentrations of influenza-associated acute necrotizing encephalopathy
- Ketotic hypoglycemia in patients with allergic diseases
- Allergen-specific T-cell Response in Patients with Phenytoin Hypersensitivity ; Simultaneous Analysis of Proliferation and Cytokine Production by Carboxyfluorescein Succinimidyl Ester (CFSE) Dilution Assay
- Increase of cord blood cytokine-producing T cells in intrauterine infection
- Maturation of macrophages from peripheral blood monocytes in Kawasaki disease : Immunocytochemica and immunoelectron microscopic study
- Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome
- 遅発型オルニチントランスカルバミラーゼ欠損症男性患者における予後因子と血漿アミノ酸プロフィールの特徴
- Exercise- or dipyridamole-loaded QGS is useful to evaluate myocardial ischemia and viability in the patients with a history of Kawasaki disease
- Estimation of the relationship between caspase-3 expression and clinical outcome of Burkitt's and Burkitt-like lymphoma
- High-grade mature B-cell lymphoma with Burkitt-like morphology : Results of a clinicopathological study of 72 Japanese patients
- Possible antenatal and perinatal related factors in development of cystic periventricular leukomalacia
- Novel de novo splice-site mutation of SCN1A in a patient with partial epilepsy with febrile seizures plus
- Developmental changes in KCNQ2 and KCNQ3 expression in human brain : Possible contribution to the age-dependent etiology of benign familial neonatal convulsions
- Inverse Correlation between the Changes of Lumbar Bone Mineral Density and Serum Undercarboxylated Osteocalcin after Vitamin K_2 (Menatetrenone) Treatment in Children Treated with Glucocorticoid and Alfacalcidol
- Vitamin K may improve bone disorder in long-term glucocorticoid-treated children with vitamin D supplementation
- Ictal electroencephalographic findings of neonatal seizures in preterm infants
- Serial diffusion-weighted imaging of neonatal herpes encephalitis : A case report
- Antiepileptic treatment against clustered seizures in benign partial epilepsy in infancy
- Single photon emission computed tomography and serial MRI in preterm infants with kernicterus
- Evolution of seizures and electroencephalographical findings in 23 cases of deletion type Angelman syndrome
- Treatment and outcome in patients with febrile convulsion associated with epileptiform discharges on electroencephalography
- Amplitude spectral analysis of maturational changes of delta waves in preterm infants
- The Predictive Value of Electroencephalogram during Early Infancy for Later Development of West Syndrome in Infants with Cystic Periventricular Leukomalacia
- Cerebral hemodynamics during early neonatal period in preterm infants with periventricular leukomalacia
- IV B6 A case with absence seizures of frontal lobe origin : simultaneous video-EEG findings
- Cardio-facio-cutaneous syndrome and moyamoya syndrome
- Physical condition of preterm infants with periventricular leukomalacia
- Evolutional Changes and Outcome of West Syndrome: Correlation with Magnetic Resonance Imaging Findings
- Serological Identification of Endothelial Antigens Predominantly Recognized in Kawasaki Disease Patients by Recombinant Expression Cloning
- The effect of inhaled corticosteroids on Chlamydophila pneumoniae and Mycoplasma pneumoniae infection in children with bronchial asthma
- Studden unexpected cardiopulmonary arrest associated with influenza infection
- Callosal lesions and delirious behavior during febrile illness
- Serum levels of cytokines and EEG findings in children with influenza associated with mild neurological complications
- Mild oliguria in preterm infants who later developed periventricular leukomalacia
- Efficacy and adverse effects of rectal thiamylal with oral triclofos for children undergoing magnetic resonance imaging
- Comparison of two low dose ACTH therapies for West syndrome:their efficacy and side effect
- A pilot study on lidocaine tape therapy for convulsions with mild gastroenteritis
- Hypoxic ischemic encephalopathy associated with neonatal seizures without other neurological abnormalities
- Combination of neonatal electroencephalography and ultrasonography : sensitive means of early diagnosis of periventricular leukomalacia
- A pilot study on umbilical venous level of natriuretic peptides in preterm infants and their relation to periventricular leukomalacia and antenatal complications
- Early Recognition of Benign Partial Epilepsy in Infancy
- Two patients with trisomy 9 mosaicism
- Epilepsy in patients with spastic cerebral palsy : correlation with MRI findings at 5 years of age
- Correlation between the serum level of endotoxin and periventricular leukomalacia in preterm infants
- IGF-1 Induces Growth, Survival and Morphological Change of Primary Hepatocytes on a Galactose-bared Polymer through both MAPK and B-catenin Pathways
- S4-4 Genetics of idiopathic epilepsies
- Epilepsies after Pocket Monster Seizures
- A Follow-up Survey on Seizures Induced by Animated Cartoon TV Program "Pocket Monster"
- IV G1 Seizures induced by animated cartoon TV program "Pocket Monster" : a follow up survey
- Epileptic Seizures Induced by Animated Cartoon, "Pocket Monster"
- Hemiconvulsion-hemiplegia syndrome and primary human herpesvirus 7 infection
- Efficacy of a diazepam suppository at preventing febrile seizure recurrence during a single febrile illness
- Phenotype for activated tissue macrophages in histiocytic necrotizing lymphadenitis
- Histological characteristics of 21 Papua New Guinean children with high-grade B-cell lymphoma, which is frequently associated with EBV infection
- Estimation of apoptosis and cell proliferation in histiocytic necrotizing lymphadenitis using immunohistochemical double staining
- Hepatocellular apoptosis associated with cytotoxic T/natural killer-cell infiltration in chronic active EBV infection
- X-Linked mental retardation and epilepsy : pathogenetic significance of ARX mutations
- Acute encephalopathy with biphasic seizures and late reduced diffusion associated with hemophagocytic syndrome
- Positive association between benign familial infantile convulsions and LGI4
- Clinical features of Wilson disease : Analysis of 10 cases
- Determinants of surgical repair of patent ductus arteriosus in low-birth-weight infants
- Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions
- Autosomal dominant nocturnal frontal lobe epilepsy : a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation
- Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies
- Matrix metalloproteinase haplotypes associated with coronary artery aneurysm formation in patients with Kawasaki disease
- The validity of the criteria for primary infection of Chlamydophila pneumoniae in children by measuring ELISA IgM antibodies
- Properties of a Novel GABAA Receptor γ2 Subunit Mutation Associated With Seizures
- Epidemiology of acute encephalopathy in Japan, with emphasis on the association of viruses and syndromes
- Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication
- Prenatal Diagnosis of High Grade Atrioventricular Block with Polymorphic Ventricular Premature Contractions due to Congenital Long QT Syndrome Using Doppler Flow Recording
- A boy with a severe phenotype of succinic semialdehyde dehydrogenase deficiency
- Four-year experience with prenatal diagnosis of congenital heart defects at a single referral center in Japan with focus on inaccurately diagnosed cases
- A Case of Tetrasomy 18p with Tracheomalacia
- A Novel Mutation of Human Liver Alanine:Glyoxylate Aminotransferase Causes Primary Hyperoxaluria Type 1: Immunohistochemical Quantification and Subcellular Distribution
- Properties of a Novel GABA_A Receptor γ_2 Subunit Mutation Associated With Seizures
- False positive of an immunochromatography kit for detection of norovirus in neonatal feces
- A Case of Kawasaki Disease Complicated with Acute Pancreatitis After Steroid Pulse Therapy
- Newborn screening for Fabry disease in Japan : prevalence and genotypes of Fabry disease in a pilot study