The first reported case of Menkes disease caused by an Alu insertion mutation
スポンサーリンク
概要
- 論文の詳細を見る
- 2007-03-01
著者
-
OZAWA Hiroshi
Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, NCNP
-
KODAMA Hiroko
Department of Community Health and Clinical Epidemiology, St. Mary's College
-
Kodama Hiroko
帝京大学 医学部小児科学教室
-
Kodama Hiroko
帝京大学 医学部小児科学
-
Kodama Hiroko
東京都立八王子小児病院
-
Kodama Hiroko
帝京大学 医学部医学科
-
Gu Yan-hong
Department Of Pediatrics Teikyo University School Of Medicine
-
Kodama Hiroko
Department Of Pediatrics School Of Medicine Teikyo University
-
Kodama H
Teikyo Univ. School Of Medicine Tokyo Jpn
-
FUJISAWA Chie
Department of Pediatrics, Teikyo University School of Medicine
-
SHIGA Katsuaki
Department of Pediatrics, Teikyo University School of Medicine
-
GU YanHong
Department of Health Policy, National Research Institute for Child Health and Development
-
WATANABE Shigero
Department of Pediatrics, Yokohama City University Medical Center
-
KIKUCHI Nobuyuki
Department of Pediatrics, Yokohama City University Medical Center
-
ISHITSUKA Ineo
Department of Biochemistry, Teikyo University School of Medicine
-
Gu Yanhong
Department Of Developmental Medical Sciences School Of International Health Graduate School Of Medic
-
Fujisawa Chie
Department Of Pediatrics Teikyo University School Of Medicine
-
Shiga Katsuaki
Department Of Pediatrics Teikyo University School Of Medicine
-
Ishitsuka Ineo
Department Of Biochemistry Teikyo University School Of Medicine
-
Kodama Hiroko
Department Of Community Health And Clinical Epidemiology St. Mary's College
-
Ozawa Hiroshi
Department Of Anatomy And Clinical Care Medicine Showa University School Of Medicine:japan Science A
-
Watanabe Shigero
Department Of Pediatrics Yokohama City University Medical Center
-
Kikuchi Nobuyuki
Department Of Pediatrics Yokohama City University Medical Center
-
Ozawa Hiroshi
Department Of Aerospace Engineering Nagoya University
-
Ozawa Hiroshi
Department Of Pediatrics Shimada Ryoiku Center
-
Kikuchi Nobuyuki
Department Of Pediatrics Yokohama City University Hospital
-
Gu Yan-Hong
Department of Pediatrics, Teikyo University School of Medicine
関連論文
- Unsteady Aerodynamic Interaction between Two Bodies at Hypersonic Speed
- 小児メタボリックシンドロームの一般社会への啓発に向けて--いま小児科医がなすべきこと (特集 すべてがわかる!子どものメタボリックシンドローム最新情報) -- (小児におけるメタボリックシンドロームへの介入)
- 頭蓋骨早期骨癒合症を契機に発見された幼児Basedow病の1例 (内分泌クリニカル・カンファランス 51) -- (甲状腺)
- 幼児期の栄養と食生活 (特集 乳幼児健診) -- (食育と保育に関して)
- Early axonal and glial pathology in fetal sheep brains with leukomalacia induced by repeated umbilical cord occlusion
- 小児科医に求められる食育推進活動
- Smoking, drinking, sleeping habits, and other lifestyle factors and the risk of systemic lupus erythematosus in Japanese females : findings from the KYSS study
- ミネラル (特集 小児の食事摂取基準--日本人の食事摂取基準2010年版をふまえて)
- MYCN高増幅の神経芽腫病期4Sの長期生存例
- 日本における Menkes 病20例の症状・治療の実態
- Unsteady Aerodynamic Interaction between Two Bodies at Hypersonic Speed
- Male Prolactinoma With Pituitary Apoplexy Concomitant With Intracerebral Hemorrhage
- Diagnosing active inflammation in the SAPHO syndrome using ^FDG-PET/CT in suspected metastatic vertebral bone tumors
- Role of Prehypertension in the Development of Coronary Atherosclerosis in Japan
- Role of Hypertension, Dyslipidemia and Diabetes Mellitus in the Development of Coronary Atherosclerosis in Japan
- Expression and Copper-binding Activity of Mammalian Cox17p
- 小児におけるメタボリックシンドロームへの対応のポイント (メタボリックシンドローム(第2版)--基礎・臨床の最新知見) -- (小児におけるメタボリックシンドローム)
- 髄液検査 髄液微量金属元素(Al, Cu, Zn, Fe) (広範囲 血液・尿化学検査,免疫学的検査(第7版・1)その数値をどう読むか) -- (一般検査(尿・髄液・糞便検査を含む))
- Pathophysiology of the transient temporal lobe lesion in a patient with Menkes disease
- Sulpiride for treatment of delusion of parasitosis
- 小児の微量元素代謝異常症
- 蛋白関係 セルロプラスミン (広範囲 血液・尿化学検査,免疫学的検査(第7版・1)その数値をどう読むか) -- (生化学的検査(1))
- 片頭痛のサブタイプとしての小児周期性症候群 (ミニ特集 小児の慢性頭痛Update--片頭痛を中心に)
- Copper Metabolism and Copper Transport Disorders
- The first reported case of Menkes disease caused by an Alu insertion mutation
- Genotype-Phenotype Analysis of Mutation R778L in the ATP7B Gene
- Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association
- 診断の指針 治療の指針 見逃されやすい小児の低身長
- II C12 Treatment of intractable epilepsies with supratherapeutic levels of phenobarbital
- 「Meet the Expert」より 小児の生活習慣病対策 (第44回日本成人病(生活習慣病)学会)
- HEMODYNAMIC CHARACTERISTICS IN CHILDREN WITH TRACKING OF HIGH BLOOD PRESSURE : Hypertension : 53 Annual Scientific Meeting, Japanese Circulation Society
- Combination treatment with penicillamine and trientine in a patient with Wilson's disease
- Direct Analysis of Ceruloplasmin in Human Blood Serum by HPLC/Inductively Coupled Plasma-Mass Spectrometry for the Diagnosis of Wilson Disease
- Prenatal diagnosis of Menkes disease by genetic analysis and copper measurement
- Neuropsychological Changes After Surgery for Anterior Communicating Artery Aneurysm
- Delayed neuronal cell death and microglial cell reactivity in the CA1 region of the rat hippocampus in the cardiac arrest model
- Abnormality of vascular elastic fibers in the macular mouse and a patient with Menkes' disease : ultrastructural and immunohistochemical study
- A 2-year-old boy with hypoactivity of neonatal onset and profound developmental delay
- An 11-month-old girl with arrested psychomotor development and lactic acidosis
- Studies of Pre-and Postoperative Arrythmia : PROCEEDINGS OF THE 25TH ANNUAL MEETlNG, JAPANESE CIRCULATION SOCIETY Part III
- Intravenous Arginine Dramatically Improved Hyperammonemia in a Patient with Late-onset Ornithine Transcarbamylase Deficiency
- Infantile convulsions with mild gastroenteritis
- 若年女性・妊婦のやせの問題 (特集 女性のライフステージと医療的課題)
- Increased cytokine levels in a cerebral mycotic aneurysm in a child with Down's syndrome
- Genetic Variation in ATP7B Promotor and 5' UTR in Han Chinese Patients with Wilson's Disease
- Apolipoprotein E genotype analysis in Chinese Han ethnic children with Wilson's disease, with a concentration on those homozygous for R778L
- TGF-β and TNF-α stimulate MMP-9 production in murine epidermal keratinocytes
- T1 radiculopathy caused by intervertebral disc herniation : symptomatic and neurological features
- Thoracic Myelopathy in Japan : Epidemiological Retrospective Study in Miyagi Prefecture during 15 Years
- Medical Superior Cluneal Nerve Entrapment Neuropathy in Teenagers : A Report of Two Cases
- Transient temporal lobe changes and a novel mutation in a patient with Menkes disease
- Molecular genetics and pathophysiology of Menkes disease
- Clinical manifestations and treatment of Menkes disease and its variants
- 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
- 子どもの食育問題と今後の対策 (特集 21世紀の小児科グランドデザインと進歩する小児医療) -- (21世紀の小児科グランドデザイン)
- Development of antirotavirus agents in Asia
- Synthesis of Racemates and (+)-Enantiomers of f-γCaprolactone, γ-Dodecanolactone and δ-Hexadecanolactone, Lactonic Sex Pheromones of the Dermestid Beetle, Rove Beetle and Oriental Hornet
- Convenient Synthesis of Muscalure, the Housefly Sex Pheromone
- Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II
- Olivopontocerebellar atrophy of neonatal onset with muscle hypertonia in two siblings
- 症例報告 Long-term Treatment with High-dose Zinc Sulphate in 36 Children with Wilson's Disease
- MAXI GSC Observations of a Spectral State Transition in the Black Hole Candidate XTE J1752-223
- C1/2 facet cyst revealed by facet joint arthrography
- 第52回日本小児神経学会に参加して
- Cox17p Plays a Key Role for Maintenance of Cellular Copper Homeostasis
- Acute encephalopathy of Bacillus cereus mimicking Reye syndrome
- Mammalian Cox17p contributes to maintain the cellular and mitochondrial copper homeostasis
- Structural and functional analysis of mammalian copper chaperone Cox17p
- The Serum Levels of Calcium and Trace Elements in Low Birth Weight Infants
- Effective prophylactic therapy for cyclic vomiting syndrome in children using valproate
- Genotype-Phenotype Analysis of Mutation R778L in the ATP7B Gene
- Obesity and Eating Behaviors in Japanese Schoolchildren Aged 9〜15, and Their Relationship to Those of Their Mothers
- Bright X-Ray Flares from the BL Lac Object Markarian 421, Detected with MAXI in 2010 January and February
- GATA3 abnormalities in six patients with HDR syndrome
- ヨウ素欠乏による甲状腺機能低下症と経腸栄養剤のヨウ素濃度の検討
- 母乳育児を行えない理由と対応
- 小児科医と母乳育児推進
- 小児の栄養-小児の肥満・メタボリック症候群の最近の話題
- Pathology, clinical features and treatments of congenital copper metabolic disorders-Focus on neurologic aspects
- MAXI GSC Monitoring of the Crab Nebula and Pulsar during the GeV Gamma-Ray Flare in 2010 September
- A Large X-Ray Flare from a Single Weak-Lined T Tauri Star TWA-7 Detected with MAXI GSC
- Numerical Investigation of Supersonic Oscillatory Flow with Strong Interference over a Capsule-shaped Abort System
- Thermolabile CPT II variants and low blood ATP levels are closely related to severity of acute encephalopathy in Japanese children
- Numerical Investigation of Supersonic Oscillatory Flow with Strong Interference over a Capsule-shaped Abort System
- Dynamic Change of Dural Sac Cross-Sectional Area in Axial Loaded Magnetic Resonance Imaging Correlates With the Severity of Clinical Symptoms in Patients With Lumbar Spinal Canal Stenosis
- A genome-wide sib-pair linkage analysis of ossification of the posterior longitudinal ligament of the spine
- Multi-observer Assessment of Trainee Dentists