Prenatal diagnosis for organic acid disorders using two mass spectrometric methods, gas chromatography mass spectrometry and tandem mass spectrometry

スポンサーリンク

概要

• 論文の詳細を見る
• 2005-08-25

著者

• Kimura Masahiko

  Department of Pediatrics, Shimane Medical University

• Iga Misako

  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

• Iga M

  Department Of Pediatrics Shimane Medical University

• Iga Misako

  島根医科大学 小児

• Iga Misako

  Department Of Pediatrics Shimane Medical 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

• 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

• Yamaguchi Seiji

  Department Of Pediatrics Faculty Of Medicine Shimane University

• Hasegawa Yuki

  Department Of Pediatrics Shimane Medical University

• Kaga Makiko

  National Center Hospital For Mental Nervous Muscular Disorders National Center Of Neurology And Psyc

• Ito Masatoshi

  Department Of Pediatrics Shimane Medical University

• Kimura Masahiko

  National Center Hospital For Mental Nervous Muscular Disorders National Center Of Neurology And Psyc

• Hasegawa Yuki

  Department Of Pediatrics Shimane University Faculty Of Medicine

• Hasegawa Yuki

  Department Of Information And Computer Sciences Saitama 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

• 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

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)

もっと見る 閉じる

スポンサーリンク