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
スポンサーリンク
概要
- 論文の詳細を見る
- Japan Society of Human Geneticsの論文
- 1997-06-30
著者
-
Kondo N
Department Of Pediatrics Gifu University Graduate School Of Medicine
-
Kondo N
Department Of Pediatrics Graduate School Of Medicine Gifu University
-
ORII Tadao
Department of Pediatrics, Gifu University Graduate School of Medicine
-
KONDO Naomi
Department of Pediatrics, Gifu University Graduate School of Medicine
-
ORII Tadao
Chubu Gakuin University
-
Montano A.m.
米国
-
Kondo Naomi
岐阜大学
-
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
-
Montano A
Graduate Univ. For Advanced Studies Kanagawa Jpn
-
Montano Adriana
Department Of Biosystems Science The Graduate University For Advanced Studies
-
SUKEGAWA Kazuko
Department of Pediatrics, Gifu University School of Medicine
-
ORII Tadao
Gifu University
-
TOMATSU SHUNJI
Department of Pediatrics School of Medicine Saint Louis University
-
YAMADA NAOTO
Department of Pediatrics, Tokyo Medical College
-
Kondo Naomi
Gifu Univ. Graduate School Of Medicine Gifu Jpn
-
Sukegawa K
Department Of Peidiatrics Gifu University School Of Medicine
-
FUKUDA Seiji
Department of Pathology, Kumamoto University School of Medicine
-
HOPWOOD John
Department of Chemical Pathology, Women's and Children's Hospital
-
MULLER Vivenne
Department of Chemical Pathology, Women's and Children's Hospital
-
Muller Vivenne
Department Of Chemical Pathology Women's And Children's Hospital
-
Fukuda Seiji
Department Of Pathology Kumamoto University Medical School
-
Hopwood John
Department Of Chemical Pathology Women's And Children's Hospital
-
Yamada Naoto
Department Of Pediatrics Tokyo Medical University
-
Kondo Naomi
Department Of Pediatrics Gifu University Graduate School Of Medicine
-
Tomatsu Shunji
Department Of Pediatrics Cardinal Glennon Children's Hospital Saint Louis University
-
Tomatsu Shunji
Department Of Pediatrics Gifu University School Of Medicine
-
Sukegawa Kazuko
Department Of Pediatrics Gifu University Medical School
-
Fukuda Seiji
Department Of Pediatrics Gifu University School Of Medicine
-
Yamada Naoto
Department Of Child Neurology National Center Hospital For Mental Nervous And Muscular Disorders Nat
-
Yamada Naoto
Department Of Pediatrics Gifu University School Of Medicine
-
KONDO Naomi
Department of Paediatrics, Gifu University School of Medicine
-
Yamada Naoto
Department of Agricultural Chemistry, Nihon University
-
Fukuda Seiji
Department of Chemistry, Kyoto Institute of Technology
関連論文
- 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
- 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
- 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
- Developing a newborn screening system for Mucopolysaccharidoses
- GAG Assay by Tandem Mass Spectrometry : Application to New-born Screening for Mucopolysaccahridoses
- Practical Assay Method of Cytosolic Acetoacetyl-CoA Thiolase by Rapid Release of Cytosolic Enzymes from Cultured Lymphocytes Using Digitonin
- A case of intractable epilepsy with mental deterioration : Detection of measles virus genome in cerebrospinal fluid and peripheral mononuclear cells using reverse transcriptase-polymerase chain reaction
- High concentration of serum nitrite/nitrate obtained from patients with influenza-associated encephalopathy
- 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
- Purification and Properties of Rat Liver Peroxisomal Very-Long-Chain Acyl-CoA Synthetase^1
- INTERSTITIAL DELETION OF THE SHORT ARM OF CHROMOSOME 10 : REPORT OF A CASE AND REVIEW OF THE LITERATURE
- Optimization of Electroporation for Transfection of Human Fibroblast Cell Lines with Origin-Defective SV40 DNA: Development of Human Transformed Fibroblast Cell Lines with Mucopolysaccharidoses (I〜VII)
- Guidelines for Diagnosis and Management of Pediatric Food Allergy in Japan
- Fate of the mutated IgG2 heavy chain : lack of expression of mutated membrane-bound IgG2 on the B cell surface in selective IgG2 deficiency
- Studies on the Mechanism of Glycogenosome Formation (II)Biochemical Properties and Immunohistochemistry of Neutral α-Glucosidase
- Studies on Mechanism of Glycogenosome Formation 10. Chemical Properties and Activity Staining of Neutral α-Glucosidase on Polyacrylamide Gel After Electrofocussing
- Metaphyseal factors promote calcium incorporation in physeal chondrocyte cultures
- Metaphyseal factors promote calcium incorporation in physeal chondrocyte cultures
- New radiological finding by magnetic resonance imaging examination of the brain in Coffin-Lowry syndrome
- 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
- Basal ganglia lesions in a patient with 3-hydroxyisobutyric aciduria
- Glucose metabolism evaluated by positron emission tomography in Lafora disease
- High Regression Rate of Coronary Aneurysms Developed in Patients with Immune Globulin-Resistant Kawasaki Disease Treated with Steroid Pulse Therapy
- A newly developed assay for melatonin using cells expressing human mel-1a receptor
- Scheie syndrome (MPS-IS) presented as bilateral trigger thumb
- Carnitine Palmitoyltransferase 2 Deficiency : The Time-Course of Blood and Urinary Acylcarnitine Levels during Initial L-Carnitine Supplementation
- Variations of Natural ^N Abundances in Leguminous Plants and Nodule Fractions
- Effects of Dioxins and Polychlorinated Biphenyls (PCBs) on Thyroid Function in Infants Born in Japan : Report from Research on Environmental Health
- Allergic march in children : Atopic dermatitis in Japanese children with bronchial asthma
- Biochemical and Immunocytochemical Properties of Peroxisomes and Mitochondria in Bovine Chromaffin Cells
- Prediction of the pathogenesis of the mutation in MeCP2 C-terminal domain
- Reduced intracellular pH in the basal ganglia and whole brain measured by ^P-MRS in bipolar disorder
- Identification of a common mutation in mucopolysaccharidosis IVA : correlation among genotype, phenotype, and keratan sulfate
- Benign infantile neurogenic muscle atrophy predominantly involving the upper extremities
- ENDOCYTIC PATHWAY OF ACETYLATED LOW-DENSITY LIPOPROTEIN IN RAT PERITONEAL MACROPHAGES (Cytochemistry of Macrophage)
- Effects of sleep deprivation : The phosphorus metabolism in the human brain measured by ^P-magnetic resonance spectroscopy
- Pure Isolation of a New Chemoautotrophic Ammonia-Oxidizing Bacterium on Cellan Gum Plate
- PURIFICATION AND IMMUNOHISTOCHEMISTRY OF FETAL ACID α-GLUCOSIDASE
- Immunohistochemical Studies of Acid α-Glucosidase in the rat liver
- Immunohistochemical study of acid α-glucosidase of human liver
- Polyclonal and Monoclonal Antibodies to Highly Purified Human Liver Acid Maltase
- Comparative evaluation of re-epithelialization promoted by fresh or cryopreserved cultured dermal substitute
- Clinical trial of allogeneic cultured dermal substitutes for intractable skin ulcers of the lower leg
- A Tuberculoma in an Adenolymphoma Arising in the Parotid Gland : A Case Report
- Increased Skin Flap Survival in Rats by Topical Application of 6-Hydroxydopamine
- Different Intracellular Localization of Peroxisomal Proteins in Fibroblasts form Patients with Aberrant Peroxisome Assembly
- Liver-Specific Silencing of the Human Gene Encoding Succinyl-CoA : 3-Ketoacid CoA Transferase
- 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)
- Development of Murine Models of Mucopolysaccharidosis IVA and VII and Hereditary Hemochromatosis
- Japanese pediatric guidelines for the treatment and management of bronchial asthma 2008
- Current position of Japanese and Chinese medicine in regard to tailor-made medicine : From the viewpoint of allergic disorders
- A Randomized Open-Label Comparative Study of Montelukast versus Theophylline Added to Inhaled Corticosteroid in Asthmatic Children
- MOLECULAR BASIS OF ZELLWEGER SYNDROME, β-KETOTHIOLASE DEFICIENCY AND MUCOPOLYSACCHARIDOSES
- Development of Mucopolysaccahridosis IVA mouse tolerant to human GALNS
- Adenovirus serotype 31 infection in a newborn girl and review of the literature
- Lipocalin-Type Prostaglandin D Synthase and Egg White Cystatin React with IgE Antibodies from Children with Egg Allergy
- Bacterial meningitis and septicemia of neonate due to Lactococcus lactis
- Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome Type A) : Biological, Clinical and Therapeutic Aspects
- Selective pontine hypoplasia : A possible common feature in 5p monosomy syndrome
- ESR study of cationic radicals in aromatic compound-Cu-AlCl3 systems.