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Department Of Pediatrics Gifu University School Of Medicine | 論文
- 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)
- Fate of the mutated IgG2 heavy chain : lack of expression of mutated membrane-bound IgG2 on the B cell surface in selective IgG2 deficiency
- 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
- Molecular genetic study in Japanese patients with Alexander disease : a novel mutation, R79L
- Glucose metabolism evaluated by positron emission tomography in Lafora disease
- Study of effect of Goreisan enema on acute gastroenteritis of children
- Pharmacological Study of Phospholipase A_2-Induced Histamine Release from Rat Peritoneal Mast Cells
- A case of Fabry's disease with granulomatous interstitial nephritis
- 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
- Reappearance of visual and somatosensory evoked potentials in a patient with childhood adrenoleukodystrophy after bone marrow transplantation and dietary erucic acid therapy
- 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
- MR imaging and ^1H-MR spectroscopy in a case of juvenile Alexander disease
- Management of acute metabolic decompensation in maple syrup urine disease : A multi-center study