Early-onset facioscapulohumeral muscular dystrophy: two case reports
スポンサーリンク
概要
- 論文の詳細を見る
- 1997-12-01
著者
-
Matsuoka Taro
Department of Pediatrics, Toyonaka City Hospital
-
YANAGIHARA Itaru
Department of Environmental Medicine, Osaka Medical Center and Research Institute for Maternal and C
-
Yanagihara Itaru
Department Of Bacterial Infections Research Institute For Microbial Diseases Osaka University
-
INUI Koji
Department of Pediatrics, Osaka University Graduate School of Medicine
-
NAGAI TOSHISABURO
Department of Pediatrics, Toyonaka Municipal Hospital
-
Yanagihara Itaru
Department Of Peditrics Osaka University School Of Medicine
-
Inui Koji
Department Of Peditrics Osaka University School Of Medicine
-
Matsuoka Taro
Department Of Pediatrics Osaka University School Of Medicine
-
Matsuoka Taro
Department Of Peditrics Osaka University School Of Medicine
-
UMEDA Jiro
Department of Dermatology, Osaka University Graduate School of Medicine
-
Umeda Jiro
Department Of Dermatology Osaka University Graduate School Of Medicine
-
Umeda Jiro
Department Of Peditrics Osaka University School Of Medicine
-
Nagai Toshisaburo
Department Of Developmental Medicine (pediatrics) Osaka University Graduate School Of Medical Scienc
-
Nagai Toshisaburo
Department Of Peditrics Osaka University School Of Medicine
-
Inui Koji
Department Of Developmental Medicine (pediatrics) Osaka University Graduate School Of Medicine
-
OKINAGA Akiko
Department of peditrics,Osaka University school of medicine
-
Okinaga Akiko
Department Of Peditrics Osaka University School Of Medicine
-
Nagai Toshisaburo
Department Of Developmental Medicine (pediatrics D-5) Osaka University Graduate School Of Medical Sc
関連論文
- Genetic Analysis in Patients with Left Ventricular Noncompaction and Evidence for Genetic Heterogeneity(Myocardial Disease, Cardiomyopathy and Myocarditis (M), The 69th Annual Scientific Meeting of the Japanese Circulation Society)
- OE-269 Evidence of Genetic Heterogeneity in Left Ventricular Noncompaction(Cardiomyopathy, basic/clinical-1 (M) OE45,Oral Presentation (English),The 70th Anniversary Annual Scientific Meeting of the Japanese Circulation Society)
- Analysis of the stable levels of messenger RNA derived from different polymorphic alleles in the vitamin D receptor gene
- In Planta Production of Immunogenic Poliovirus Peptide Using Tobacco Mosaic Virus-Based Vector System(PLANT BIOTECHNOLOGY)
- N-Linked Glycan Structures of Human Lactoferrin Produced by Transgenic Rice
- Human N-Acetylglucosaminyltransferase I. : Expression in Escherichia coli as a Soluble Enzyme, and Application as an Immobilized Enzyme for the Chemoenzymatic Synthesis of N-Linked Oligosaccharides
- Cancer-Associated Retinopathy in a Child with Langerhans Cell Histiocytosis
- Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation
- Novel mutation of gene coding for glial fibrillary acidic protein in a Japanese patient with Alexander disease
- 健康乳児、小児、及び川崎病児の冠動脈径についての検討
- Treatment of mitochondrial encephalomyopathy with a combination of cytochrome C and vitamins B_1 and B_2
- Functional and Morphological Abnormalities of Mitochondria in Human Cells Containing Mitochondrial DNA with Pathogenic Point Mutations in tRNA Genes
- A patient with Shiga toxin-associated hemolytic uremic syndrome who developed hyperkalemia in the recovery period
- Molecular form and subcellular distribution of acid β-galactosidase in fibroblasts from patients with G_ gangliosidosis,Morquio B disease and galactosialidosis
- Expression and Purification of Recombinant Human Annexin A2 in Pichia pastoris and Utility of Expression Product for Detecting Annexin A2 Antibody(MEDICAL BIOTECHNOLOGY)
- Difficulty in differential diagnosis of atypical absence seizures and complex partial seizures in childhood
- Mutation analysis of Japanese patient with fucosidosis
- Zonisamide Monotherapy in Newly Diagnosed Infantile Spasms
- Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome
- Ictal Video-EEG Recording of Three Partial Seizures in a Patient with the Benign Infantile Convulsions Associated with Mild Gastroenteritis
- Remission of progressive multifocal leukoencephalopathy following highly active antiretroviral therapy in a patient with HIV infection
- Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome
- Gene therapy in Duchenne muscular dystrophy
- Temporal slow waves and cerebrovascular diseases
- Effects of sleep on pain-related somatosensory evoked potentials in humans
- Conditional gene targeting and its application in the skin
- CORRELATION OF SUBCELLULAR LOCALIZATION OF DISEASE-SPECIFIC INCLUSIONS AND SPHINGOLIPID ACTIVATOR PROTEIN-1(SAP-1)IN SULFATIDE SULFATASE-DEFICIENT FIBROBLASTS
- Localization of SAP-1 in fibroblasts of metachromatic leukodystrophy
- Is temporal slow wave on EEG a useful diagnostic tool in vascular depression?
- Early-onset facioscapulohumeral muscular dystrophy: two case reports
- Face representation in the human primary somatosensory cortex
- ALLELE FREQUENCIES OF INTRAGENIC, AND 5' AND 3' MARKERS OF THE DYSTROPHIN GENE IN JAPANESE FAMILIES AFFLICTED WITH DUCHENNE OR BECKER MUSCULAR DYSTROPHY
- Altered Sensitivities to Potential Inhibitors of Cholesterol Biosynthesis in Niemann-Pick Type C Fibroblasts
- Serum KL-6 level in newborns with meconium aspiration syndrome
- Distribution of GABA-T intensive neurons in the pons and medulla of rat.
- A Glyoxylic Acid Freeze-Drying Histofluorescence Method for Central Serotonin Neruon
- A Sensitive Wet-Histofluorescence Method by Glyoxylic Acid for Central Catecholamine Terminals
- Divergent Projection of Catecholamine Neuron of Locus Ceruleus as revealed by Fluorescent Retrograde Double Labeling Technique
- Double Labeling Technique of Central Catecholamine Neuron by means of Fluorescent Dyes
- Indigogenic Method for β-galactosidase in Cultured Skin Fibroblasts and its Application to Single Cell Analysis
- A case of chronic infantile type of fucosidosis : clinical and magnetic resonance in image findings
- SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome
- Inflammatory response and intrauterine fetal death in pregnant mice induced by MBA from the clinical isolate of Ureaplasma parvum
- Virulence factors of Ureaplasma parvum
- Establishment and characterization of Roberts syndrome and SC phocomelia model medaka (Oryzias latipes)