スポンサーリンク
The Research Foundation for Microbial Diseases of Osaka University | 論文
- Treatment with recombinant IL-2 for recurrent respiratory infection in a case of cartilage-hair hypoplasia with autoimmune hemolytic anemia
- 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
- Alendronate and pharmacological doses of 1α OHD_3 therapy in a patient with McCune-Albright syndrome and accompanying hypophosphatemia
- A patient with Shiga toxin-associated hemolytic uremic syndrome who developed hyperkalemia in the recovery period
- Hypophosphatemic rickets accompanying McCune-Albright syndrome : evidence that a humoral factor causes hypophosphatemia
- Blunted effect of parathyroid hormone on adenosine 3',5'-cyclic monophosphate production is derived from ATP depletion in proximal convoluted tubules of hypophosphatemic mice
- 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
- Human herpesvirus-6 infection in neonates : Not protected by only humoral immunity
- Decreased frequency of seizures in infantile spasms associated with lissencephaly by human herpes virus 7 infection
- Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome
- Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence
- 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
- Isolated Iissencephaly sequence with balanced chromosome translocation involving 17p13.3
- Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome
- A novel activating mutation (C129S) in the calcium-sensing receptor gene in a Japanese family with autosomal dominant hypocalcemia
- Genetic alterations in the JAG1 gene in Japanese patients with Alagille syndrome