Toward a new treatment : Role of International Morquio Registry

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概要

• 論文の詳細を見る
• 2001-10-23

著者

• 戸松 俊治

  セントルイス大学 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

• ORII Tadao

  Department of Pediatrics, Gifu University Graduate School of Medicine

• Kondo Naomi

  岐阜大学

• Grubb J.

  セントルイス大学

• Orii T

  Department Of Pediatrics Gifu University Graduate School Of Medicine

• Orii Tadao

  岐阜大学

• Orii Tadao

  Department Of Pediatrics Gifu University School Of Medicine

• Kondo Naomi

  College Of Agriculture And Veterinary Medicine Nihon University

• ORII Tadao

  Gifu University

• SUKEGAWA Kazuko

  岐阜大学

• SLY W.

  セントルイス大学

• HARINGS M.

  セントルイス大学

• Sukegawa K

  Department Of Peidiatrics Gifu University School Of Medicine

関連論文

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• 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
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• INCIDENCE OF PEROXISOMAL DISORDERS IN JAPAN
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• Urinary leukotriene E_4 and 11-dehydro-thromboxane B_2 excretion in children with bronchial asthma
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• Acidic amino acid tag enhances response to enzyme replacement in mucopolysaccharidosis type VII mice
• Gas chromatography-mass spectrometry with tert.-butyldimethylsilyl derivatization : use of the simplified sample preparations and the automated data system to screen for organic acidemias
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• International Morquio A Registry : Clinical Manifestation and Natural Course of Morquio A Disease
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• Practical Assay Method of Cytosolic Acetoacetyl-CoA Thiolase by Rapid Release of Cytosolic Enzymes from Cultured Lymphocytes Using Digitonin
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• Enzyme replacement therapy from birth in mucopolysaccharidosis IVA mice
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• Genistein Treatment on Mucopolysaccharidosis IIIA Mice
• Growth charts for Patients with Mucopolysaccharidosis IVA
• Implications of absence of clinical phenotype on Morquio A mice : Why rodents do not require KSII?
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• Monitoring of keratan sulfate in serum of MPS mice by Tandem Mass Spectrometry
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• A New Approach to Develop Mice Model
• Development and Characterization of Knock-out and Knock-in Mice Model
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• MUCOPOLYSACCHARIDOSIS IVA : A NOVEL SPLICE ACCEPTOR SITE MUTATION IN INTRON 4 OF THE N-ACETYLGALACTOSAMINE-6-SULFATE SULFATASE GENE IN AN AFGHANISTAN GIRL WITH CLASSICAL MORQUIO DISEASE
• Carnitine Palmitoyltransferase 2 Deficiency : The Time-Course of Blood and Urinary Acylcarnitine Levels during Initial L-Carnitine Supplementation
• Biochemical and Immunocytochemical Properties of Peroxisomes and Mitochondria in Bovine Chromaffin Cells
• Prediction of the pathogenesis of the mutation in MeCP2 C-terminal domain
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• Different Intracellular Localization of Peroxisomal Proteins in Fibroblasts form Patients with Aberrant Peroxisome Assembly

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