Enzymatic diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by detecting 2-octenoyl-CoA production using high-performance liquid chromatography : A practical confirmatory test for tandem mass spectrometry newborn screening in Japan
スポンサーリンク
概要
- 論文の詳細を見る
- 2005-09-05
著者
-
Kimura Masahiko
Department of Pediatrics, Shimane Medical University
-
Yamaguchi Seiji
Department of Pediatrics, Shimane Medical University
-
Kimura Masahiko
島根大学 医学部小児科学
-
Kimura M
Department Of Pediatrics Shimane University School Of Medicine
-
Kimura Masahiko
Department Of Astrophysics Nagoya University
-
Yamaguchi Seiji
島根大学 医学部小児科学
-
Yamaguchi Seiji
島根大学 医学部 小児科
-
MIURA Kiyokuni
Aichi Prefectural Colony Hospital
-
ONO Hiroaki
Department of Liberal Arts, Osaka Technical College
-
Takada Goro
Department Of Pediatrics Hiroshima University Graduate School Of Biomedical Sciences
-
Takada G
Rare Sugar Research Center Kagawa University
-
Takata Goro
Rare Sugar Res. Center And Fac. Of Agriculture Kagawa Univeristy
-
Takada Goro
Department Of Biochemistry And Food Science Faculty Of Agriculture Kanagawa University
-
NISHIMURA YUTAKA
Department of Pediatrics, Hiroshima University School of Medicine
-
SAKURA NOBUO
Department of Pediatrics, Hiroshima University School of Medicine
-
Yamaguchi Seiji
Department Of Chemistry Graduate School Of Science And Engineering University Of Toyama
-
HASEGAWA Yuki
Department of Pediatrics, Shimane University School of Medicine
-
SHIGEMATSU Yosuke
Department of Health Science, Faculty of Medical Sciences, University of Fukui
-
TAJIMA Go
Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences
-
YOFUNE Hiroko
Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences
-
HATA Ikue
Department of Pediatrics, University of Fukui
-
KOBAYASHI Masao
Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences
-
Takada Goro
秋田大学 医学部小児外科学
-
Yamaguchi Seiji
Department Of Pediatrics Faculty Of Medicine Shimane University
-
Tajima Go
Department Of Pediatrics Faculty Of Medicine Hiroshima University
-
Hata Ikue
Department Of Pediatrics Fukui Medical University Hospital
-
Hata Ikue
Department Of Pediatrics Faculty Of Medical Sciences University Of Fukui
-
Ono Hiroaki
Department Of Pediatrics Hiroshima Prefecture Hospital
-
Sakura Nobuo
Department Of Pediatrics Hiroshima University School Of Medicine
-
Yofune Hiroko
Department Of Pediatrics Hiroshima University Graduate School Of Biomedical Sciences
-
Hasegawa Yuki
Department Of Pediatrics Shimane Medical University
-
Kaga Makiko
National Center Hospital For Mental Nervous Muscular Disorders National Center Of Neurology And Psyc
-
Nishimura Yutaka
Department Of Pediatrics Hiroshima University School Of Medicine
-
Kimura Masahiko
National Center Hospital For Mental Nervous Muscular Disorders National Center Of Neurology And Psyc
-
Tajima Gou
Department Of Pediatrics Hiroshima University Graduate School Of Biomedical Sciences
-
Kobayashi Masao
Department Of Pediatrics Graduate School Of Biomedical Sciences Hiroshima University
-
Ono Hiroaki
Department Of Pediatrics Hiroshima University School Of Medicine
-
Hasegawa Yuki
Department Of Pediatrics Shimane University Faculty Of Medicine
-
Ono Hiroaki
Department Of Liberal Arts And Science Setsunan University
-
Hasegawa Yuki
Department Of Information And Computer Sciences Saitama University
-
Takata Goro
Rare Sugar Research Center Kagawa University
-
Sakura Nobuo
Department Of Pediatrics Faculty Of Medicine Hiroshima University
-
Shigematsu Yosuke
Department Of Health Science Faculty Of Medical Sciences University Of Fukui
-
Shigematsu Yosuke
Department Of Fundamental Nursing Fukui Medical University
-
Kimura Masahiko
Department Of Agricultural Engineering Faculty Of Agriculture Tottori University
-
Kimura Masahiko
Department Of Pediatrics Faculty Of Medicine Shimane University
-
Kobayashi Masao
Department Of Pediatrics And Medicine Medical University Of South Carolina
-
Hasegawa Yuki
Department of Applied Physics, Tohoku University, Sendai 980-8579, Japan
-
YAMAGUCHI Seiji
Department of Biomedical Sciences, College of Life and Health Sciences, Chubu University
-
Ono Hiroaki
Department of Chemistry, Faculty of Science, Hiroshima University
-
KOBAYASHI MASAO
Department of Chemical Engineering, Faculty of Engineering Science, Osaka University
関連論文
- Fibre Multi-Object Spectrograph (FMOS) for the Subaru Telescope
- Pilot study on neonatal mass screening for inborn errors of metabolism by gas chromatography-mass spectrometry : eighteen months experience in Shimane Area
- III C1 Probable molecular dysfunction by autoantibodies against NMDA receptor GluRe2 in epilepsies after acute encephalitis
- Urinary organic acids in peroxisomal disorders : a simple screening method
- A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata
- Epilepsy in Peroxisomal Diseases
- Survey of Period Variations of Superhumps in SU UMa-Type Dwarf Novae
- High-Resolution Images of the Ring Nebula Taken with the Subaru Telescope
- Determination of the 8-methyl ether of xanthurenic acid in human serum by high-performance liquid chromatography with fluorescence detection
- A Chain of Dark Clouds in Projection Against the Galactic Center
- Subaru First-Loght Deep Photometry of Galaxies in A 851 Field
- Search for Outer Massive Bodies around Transiting Planetary Systems : Candidates of Faint Stellar Companions around HAT-P-7
- The 2006 November Outburst of EG Aquarii : the SU UMa Nature Revealed
- Discovery of a WZ Sge-Type Dwarf Nova, SDSS J102146.44+234926.3 : Unprecedented Infrared Activity during a Rebrightening Phase
- The IRSF Magellanic Clouds Point Source Catalog
- Near-Infrared Polarization Images of the Orion Molecular Cloud 1 South Region
- Evolution of Elliptical Galaxies at z * 1 Revealed from a Large, Multicolor Sample of Extremely Red Objects
- Characteristic findings of auditory brainstem response and otoacoustic emission in the Bronx waltzer mouse
- Molecular analysis of AVPR2 gene in a Japanese patient With X-linked nephrogenic diabetes insipidus, congenital heart disease and mental retardation
- Gas chromatographic-mass spectrometric screening for organic acidemias using dried urine filter paper : determination of α-ketoacids
- Gas chromatography-mass spectrometry with tert.-butyldimethylsilyl derivatization : use of the simplified sample preparations and the automated data system to screen for organic acidemias
- Gas chromatography-mass spectrometry with tert. -butyldimethylsilyl derivatization : use of the simplified sample preparations and the automated data system to screen for organic acidemias
- Prenatal diagnosis for organic acid disorders using two mass spectrometric methods, gas chromatography mass spectrometry and tandem mass spectrometry
- A survey of Japanese patients with mitochondrial fatty acid β-oxidation and related disorders as detected from 1985 to 2000
- Rapid, simplified and sensitive method for screening fructose-1, 6-diphosphatase deficiency by analyzing urinary metabolites in urease/direct preparations and gas chromatography-mass spectrometry in the selected-ion monitoring mode
- Evaluation of sphingolipids in vitreous bodies from a patient with Gaucher disease, using delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry
- Application of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in cultured skin fibroblasts from sphingolipidosis patients
- Application of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in tissues from sphingolipidosis patients
- Synthesis and Absolute Structure of (-)-Umtatin
- P-101 Pd(II)-CATALYZED CYCLIZATION TO ETHER : SYNTHETIC STUDIES OF YESSOTOXIN
- Ring Expansion and Ring Contraction Observed in Isopropenyldihydrofuran Derivatives
- Ring Expansion of Isopropenylcyclopropanes to Dihydromethyloxepins
- 1, 4-Asymmetric Induction in Palladium(II)-catalyzed Intramolecular N-Alkylation Reaction. Construction of 2-Functionalized 5-Hydroxypiperidine
- Urinary organic metabolite screening of children with influenza-associated encephalopathy for inborn errors of metabolism using GC/MS
- Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency
- ESI-MS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders
- KCNQ1遺伝子変異を伴う日本人小児QT延長症候群患者の臨床的、電気生理学的
- Clinical and biochemical studies on Chinese patients with methylmalonic acidumia
- GAG Assay by Tandem Mass Spectrometry : Application to New-born Screening for Mucopolysaccahridoses
- 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
- Practical Assay Method of Cytosolic Acetoacetyl-CoA Thiolase by Rapid Release of Cytosolic Enzymes from Cultured Lymphocytes Using Digitonin
- Novel mutation of methylmalonyl-CoA mutase gene causing the mut^0 form of methylmalonic acidemia in a Japanese girl
- Distal myopathy with rimmed vacuoles in a case of opercular syndrome
- Two Japanese families with hyperekplexia who have a Arg271Gln mutation in the glycine receptor alpha 1 subunit gene
- Enzymatic diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by detecting 2-octenoyl-CoA production using high-performance liquid chromatography : A practical confirmatory test for tandem mass spectrometry newborn screening in Japan
- Serial magnetic resonance angiography in cerebral infarction after varicella infection
- Transcatheter closure of patent ductus arteriosus in an infant weighing 1180 g
- A Variant case of congenital bilateral perisylvian syndrome with asymmetric findings on neuroimaging and septum pellucidum defect
- A case of West syndrome well controlled by very short and low-does ACTH therapy
- Prenatal and postnatal evaluation of Dandy-Walker malformation : a case report
- Brain holding spells in early infancy
- Clinical study of partial epilepsies occurring before two years of life
- Nonimmunologic fetal hydrops and chromosomal disorder : two cases of Down syndrome associated with hematopoietic abnormalities
- Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 15-year-old girl
- Heavily melanotic perivascular epithelioid clear cell tumor of the kidney
- Coronary risk factors in acute Kawasaki disease : Correlation of serum immunoglobulin levels with coronary complications
- Deep-Imaging Observations of a Candidate of an Absorbed QSO at z=0.653, AX J131831+3341
- Proteoglycan core protein in human urine and its possible role on calcium oxalate urolithiasis
- Fluctuating hearing loss, episodic headache, and stroke with platelet hyperaggregability : Coexistence of auditory neuropathy and cochlear hearing loss
- Molecular genetic study in Japanese patients with Alexander disease : a novel mutation, R79L
- Mechanical ventilation care in severe childhood neurological disorders
- Diagnosis of Alexander disease in a Japanese patient by molecular genetic analysis
- A severely brain-damaged case of 3-hydroxyisobutyric aciduria
- Otoacoustic emission in patients with neurological disorders who have auditory brainstem response abnormality
- Pharmacokinetic Interaction of Zonisamide in Rats. Effect of Other Antiepileptics on Zonisamide
- Pharmacokinetic Analysis of Amitriptyline and Its Demethylated Metabolite in Serum and Brain of Rats after Acute and Chronic Oral Administration of Amitriptyline
- Ocular Pharmacokinetics of Latamoxef and Cefaclor in Humans. Penetration into Aqueous Humor
- Ocular Pharmacokinetics of Latamoxef and Cefaclor in Rabbits. Penetration into Aqueous Humor
- Brain stem glioblastoma with multiple large cyst formation and leptomeningeal dissemination in a 4-year-old girl
- Carnitine Palmitoyltransferase 2 Deficiency : The Time-Course of Blood and Urinary Acylcarnitine Levels during Initial L-Carnitine Supplementation
- Pilot study of gas chromatographic-mass spectrometric screening of newborn urine for inborn errors of metabolism after treatment with urease
- Cross-sectional analysis of the surface ceramic layer developed on Ti metal by NaOH-heat treatment and soaking in SBF
- Quantitative evaluation of sphingolipids using delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry with sphingosylphosphorylcholine as an internal standard Practical application to cardiac valves from a patient
- THE INHIBITORY EFFECT OF KAMPOU EXTRACTS ON IN VITRO CALCIUM OXALATE CRYSTALLIZATION AND IN VIVO STONE FORMATION IN AN ANIMAL MODEL
- Screening for fatty acid beta oxidation disorders Acylglycine analysis by electron impact ionization gas chromatography-mass spectrometry
- Glutaric Aciduria Type II in a Thai Infant
- A New Spproach to dl-Cannabichromene
- Identification of a common mutation in mucopolysaccharidosis IVA : correlation among genotype, phenotype, and keratan sulfate
- Automated Metabolic Profiling and Interpretation of GC/MS Data for Organic Acidemia Screening : A Personal Computer-Based System
- ASSESSMENT OF LEFT INTERNAL MAMMARY ARTERY BYPASS GRAFT PATENCY BY DOPPLER ECHOGRAPHY : THE EXAMINATION FROM LEFT SUPRACLAVICULAR FOSSA : Echocardiography, Pulsed Doppler : 53 Annual Scientific Meeting, Japanese Circulation Society
- Different neuroradiological findings during two stroke-like episodes in a patient with a congenital disorder of glycosylation type Ia
- Segmental testicular infarction due to cholesterol embolism : Not the first case, but the first report
- Relapse patterns of localized non-Hodgkin's lymphoma of the head and neck after clinical remission: results of a strict follow-up procedure
- Relapsed Non-Hodgkin's Lymphoma: Detection and Treatment
- Radiotherapy for Localized Relapse in Patients with Non-Hodgkin's Lymphoma:A Preliminary Report
- Efficacy of Intravascular Ultrasound-guided Stent Implantation
- Seizure recurrence after reduction of an antiepileptic drug in patients with unprovoked seizures and severe neurological abnormalities
- Effect of antiepileptic drugs on thyroid function
- Carbamazepine-induced thrombocytopenia and carbamazepine-10,11-epoxide : A case report
- Carbamazepine-exacerbated epilepsy with multifocal shifting independent epileptiform discharges on electroencephalogram : A case report
- Structural Strength Analysis of Tractor Members Using Finite Element Method : I. Programs for truss and Rahmen Structures
- Lipomatous ganglioneuroma of the retroperitoneum
- Molecular analysis of a presymptomatic case of carnitine palmitoyl transferase I (CPT I) deficiency detected by tandem mass spectrometry newborn screening in Japan
- Auditory perception in auditory neuropathy : Clinical similarity with auditory verbal agnosia
- Developmental changes of distortion product and transient evoked otoacoustic emissions in different age groups
- Effect of heat stress and bezafibrate on mitochondrial β-oxidation : Comparison between cultured cells from normal and mitochondrial fatty acid oxidation disorder children using in vitro probe acylcarnitine profiling assay
- Advantage of Cine-MR Imaging for the Evaluation of Valvular Regurgitation : 53th Annual Scientific Session of the Japanese Circulation Society
- In vitro probe acylcarnitine profiling assay using cultured fibroblasts and electrospray ionization tandem mass spectrometry predicts severity of patients with glutaric aciduria type 2
- Heat stress deteriorates mitochondrial β-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid β-oxidation disorders
- Enzymatic evaluation of glutaric acidemia type 1 by an in vitro probe assay of acylcarnitine profiling using fibroblasts and electrospray ionization/tandem mass spectrometry (MS/MS)