Simplified method for the chemical diagnosis of organic aciduria using GC/MS
スポンサーリンク
概要
- 論文の詳細を見る
- 2010-04-15
著者
-
Yamaguchi Seiji
Department Of Chemistry Graduate School Of Science And Engineering University Of Toyama
-
HASEGAWA Yuki
Department of Pediatrics, Shimane University School of Medicine
-
Yamaguchi Seiji
Department Of Pediatrics Shimane University School Of Medicine
-
Hasegawa Yuki
Department Of Pediatrics Shimane University School Of Medicine
-
Hasegawa Yuki
Department Of Information And Computer Sciences Saitama University
-
Nakagawa Katsuhiro
Department Of Pediatrics Shimane University School Of Medicine
-
KAWANA Shuichi
Department of Pediatrics, Shimane University School of Medicine
-
Kawana Shuichi
Department Of Pediatrics Shimane University School Of Medicine
-
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
-
YAMAGUCHI Seiji
Department of Pediatrics, Shimane University School of Medicine
関連論文
- 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
- Determination of the 8-methyl ether of xanthurenic acid in human serum by high-performance liquid chromatography with fluorescence detection
- Induction Concurrent Chemoradiation Therapy for Invading Apical Non-Small Cell Lung Cancer
- 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
- Non-small cell lung cancer : radiation therapy for locoregional recurrence after complete resection
- Proteoglycan core protein in human urine and its possible role on calcium oxalate urolithiasis
- A severely brain-damaged case of 3-hydroxyisobutyric aciduria
- 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
- Separation of Lepidopterous Sex Pheromones by Reversed-phase Thin Layer Chromatography and High Performance Liquid Chromatography
- 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
- Segmental testicular infarction due to cholesterol embolism : Not the first case, but the first report
- Pulmonary suture abscess with false-positive ^F-fluorodeoxyglucose positron emission scan mimicking lung cancer recurrence
- Surgically Removed Thoracolithiasis : Report of Two Cases
- Ectopic Cervico-mediastinal Thymoma Confirmed by Flow Cytometric Analysis of Tumor-derived Lymphocytes
- Video-Assisted Thoracoscopic Bullectomy for Spontaneous Pneumothorax in a Swyer-James Syndrome Patient
- Steroid Therapy without Primary Dose Escalation for Postthymectomy Crisis in 2 Thymomatous Myasthenia Gravis Patients
- 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
- 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
- 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)
- Special section on towards the realization of organic molecular electronics - Foreword
- The first case of 4-hydroxybutyric aciduria in Japan
- A case of laparoscopic adrenalectomy for large bilateral pheochromocytoma in a patient with multiple endocrine neoplasia type 2A
- Quantitative evaluation of sphingomyelin and glucosylceramide using matrix-assisted laser desorption ionization time-of-flight mass spectrometry with sphingosylphosphorylcholine as an internal standard Practical application to tissues from patients with N
- Bioelectrical Potential Responses of Plant Cells under various Light Irradiation(Bioelectronics and Sensors)
- Simple and rapid analytical method for detection of amino acids in blood using blood spot on filter paper, fast-GC/MS and isotope dilution technique
- Simplified method for the chemical diagnosis of organic aciduria using GC/MS
- Adenovirus serotype 31 infection in a newborn girl and review of the literature
- Two cases of plasmacytoid variant of urothelial carcinoma of urinary bladder : systemic chemotherapy might be of benefit
- Laparoscopic resection of primary retroperitoneal mucinous cystadenoma by retroperitoneal approach
- Two-Dimensional Sodium Fluctuation at High Temperatures in High-Temperature Thermoelectric Material $\gamma$-Na0.7CoO2
- The synthesis of racemic formannoxin, anodendroic acid, and 5-acetyl-2-(1-(hydroxymethyl)vinyl)2,3-dihydrobenzofuran.
- The fries rearrangement of bz-benzoyloxybenzofuran derivatives and the synthesis of the furo derivatives of 4-phenyl-2H-chromen-2-one.
- The Photochemical Reaction of Benzofuran Derivatives with Benzophenone or Benzaldehyde
- The synthesis of benzofuroquinolines. VI. A new synthesis of benzofuro(2,3-c)quinoline derivatives.
- Acylations of 2-isopropenyl-2,3-dihydrobenzofurans.
- A new preparative method of 2,2-dimethyl-2H-chromenes.
- A new preparative method of 4-hydroxybenzofuran-2-carboxylic acid derivatives.
- The Fries Rearrangement of Acetoxybenzofuran Derivatives and the Synthesis of Furochromenonecarboxylic Acids
- The synthesis of two 6-acetyl-2,3-dihydro-5-benzofuranols naturally obtained from Baccharis conferta.
- The revised structure of a dihydrobenzofuran derivative isolated from Lasiolaena morii.
- The synthesis of some dimethylpyranocoumarins and isopropenyldihydrofuranocoumarins.
- Acylations of 2,2-dimethyl-2H-chromenes.
- Preoperative serum sodium is associated with cancer-specific survival in patients with upper urinary tract urothelial carcinoma treated by nephroureterectomy