Carnitine Palmitoyltransferase 2 Deficiency : The Time-Course of Blood and Urinary Acylcarnitine Levels during Initial L-Carnitine Supplementation
スポンサーリンク
概要
- 論文の詳細を見る
- 2010-07-01
著者
-
Yamaguchi Seiji
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
-
Kondo N
Department Of Pediatrics Gifu University Graduate School Of Medicine
-
Kondo Naomi
岐阜大学 医学研究科小児病態学
-
Kondo N
Department Of Pediatrics Graduate School Of Medicine Gifu University
-
Kondo Naomi
岐阜大学 医学系研究科小児病態学
-
KONDO Naomi
Department of Pediatrics, Gifu University Graduate School of Medicine
-
FUKAO Toshiyuki
Department of Pediatrics, Graduate School of Medicine, Gifu University
-
TERAMOTO Takahide
Department of Pediatrics, Graduate School of Medicine, Gifu University
-
寺本 貴英
Department Of Pediatrics Graduate School Of Medicine Gifu University
-
Kondo Naomi
岐阜大学
-
Kondo Naomi
College Of Agriculture And Veterinary Medicine Nihon University
-
TAKAYANAGI MASAKI
Department of Pediatrics, Chiba Children's 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
-
KOBAYASHI Hironori
Department of Pediatrics, Shimane University Faculty of Medicine
-
Kondo Naomi
Gifu Univ. Graduate School Of Medicine Gifu Jpn
-
Fukao Toshiyuki
Department Of Pediatrics Gifu University School Of Medicine
-
Yamaguchi Seiji
Department Of Pediatrics Faculty Of Medicine Shimane University
-
Kondo Naomi
Department Of Pediatrics Gifu University Graduate School Of Medicine
-
Hasegawa Yuki
Department Of Pediatrics Shimane Medical University
-
HORI Tomohiro
Department of Pediatrics, Gifu University Graduate School of Medicine
-
YASUNO Tetsuhiko
Division of Nephrology and Rheumatology, Department of Internal Medicine, Fukuoka University School
-
Fukao Toshiyuki
Department Of Pediatrics Gifu University Graduate School Of Medicine
-
Teramoto Takahide
Department Of Pediatrics Gifu University Graduate School Of Medicine
-
Teramoto Takahide
Department Of Pediatrics Gifu University School Of Medicine
-
Hasegawa Yuki
Department Of Pediatrics Shimane University Faculty Of Medicine
-
Yasuno Tetsuhiko
Division Of Nephrology And Rheumatology Department Of Internal Medicine Fukuoka University School Of
-
Hasegawa Yuki
Department Of Information And Computer Sciences Saitama University
-
Hori Tomohiro
Department Of Pediatrics Gifu University Graduate School Of Medicine
-
Takayanagi Masaki
Department Of Metabolism Chiba Children's Hospital
-
Kobayashi Hironori
Department Of Pediatrics Shimane University School Of Medicine
-
Kobayashi Hironori
Department Of Earth Sciences Faculty Of Science Toyama 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
-
KONDO Naomi
Department of Paediatrics, Gifu University School of Medicine
-
Kobayashi Hironori
Department of Chemistry, Osaka Kyoiku University
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
- ムコ多糖症2型患者とその家族の精神心理学的検討
- Parents of childhood X-linked adrenoleukodystrophy : High risk for depression and neurosis
- Evaluation of ADL in patients with Hunter disease using FIM score
- Aberrant peroxisome morphology in peroxisomal beta-oxidation enzyme deficiencies
- Autoantibodies and Cell-mediated Autoimmunity to NMDA-type GluRε2 in Patients with Rasmussen's Encephalitis and Chronic Progressive Epilepsia Partialis Continua
- Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders
- Epidemiology of X-linked adrenoleukodystrophy in Japan
- 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
- Epileptic seizures and structural abnormalities in a patient with holoprosencephaly
- The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6
- The clinical course of childhood and adolescent adrenoleukodystrophy before and after Lorenzo's oil
- Congenital myotonic dystrophy : report of paternal transmission
- Restoration of biochemical function of the peroxisome in the temperature-sensitive mild forms of peroxisome biogenesis disorder in humans
- Prenatal diagnosis of peroxisomal d-3-hydroxyacyl-CoA dehydratase / d-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency
- A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata
- Two different pathological conditions of photoparoxysmal responses in hereditary dentatorubral-pallidoluysian atrophy
- Epilepsy in Peroxisomal Diseases
- Trial of docosahexaenoic acid supplementation on a Japanese patient with a peroxisome biogenesis defect
- INCIDENCE OF PEROXISOMAL DISORDERS IN JAPAN
- Various Expression Patterns of α1 and α2 Genes in IgA Deficiency
- Age-Related Changes of Transforming Growth Factor β1 in Japanese Children
- 病原性大腸菌O-157による溶血性尿毒症症候群における中枢神経系障害の出現の予測のために役に立つ指標(SCWPスコア)
- Expression, Purification and Structural Analysis of Human IL-18 Binding Protein : A Potent Therapeutic Molecule for Allergy
- Hypothermia Augments NF-kappaB Activity and the Production of IL-12 and IFN-gamma
- Clinical and bacteriological evaluation of the efficacy of piperacillin in children with pneumonia
- Pharmacokinetics of Beclomethasone Dipropionate in an Hydrofluoroalkane-134a Propellant System in Japanese Children with Bronchial Asthma
- Development of Fluorescence-linked Immunosorbent Assay for High Throughput Screening of Interferon-γ
- Questionnaire-based Study on the Relationship between Pet-keeping and Allergic Diseases in Young Children in Japan
- Urinary leukotriene E_4 and 11-dehydro-thromboxane B_2 excretion in children with bronchial asthma
- Genetic defects in downregulation of IgE production and a new genetic classification of atopy
- Population pharmacokinetics of pranlukast hydrate dry syrup in children with bronchial asthma
- Interleukin-18 is associated with the severity of atopic dermatitis
- Determination of the 8-methyl ether of xanthurenic acid in human serum by high-performance liquid chromatography with fluorescence detection
- 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
- Developing a newborn screening system for Mucopolysaccharidoses
- 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
- Development of Morquio A Mice and Enzyme Replacement Therapy
- Toward a new treatment : Role of International Morquio Registry
- A New Approach to Develop Mice Model
- Spectrums of Mutations in Mucopolysaccharidosis IVA (Morquio disease) gene
- 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
- 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
- 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
- Different Intracellular Localization of Peroxisomal Proteins in Fibroblasts form Patients with Aberrant Peroxisome Assembly
- 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)
- Adenovirus serotype 31 infection in a newborn girl and review of the literature