OHURA Toshihiro | Department of Pediatrics, Tohoku University School of Medicine

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著作論文

The effects of copper-histidine therapy on brain metabolism in a patient with Menkes disease : a proton magnetic resonance spectroscopic study
Abnormal white matter lesions with sensorineural hearing loss caused by congenital cytomegalovirus infection : retrospective diagnosis by PCR using Guthrie cards
Rapid, simplified and sensitive method for screening fructose-1, 6-diphosphatase deficiency by analyzing urinary metabolites in urease/direct preparations and gas chromatography-mass spectrometry in the selected-ion monitoring mode
Hypophosphatemia in juvenile patients with systemic lupus erythematosus
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency
Acid Sphingomyelinase : Relation of ^Lysine Residue on the Ratio of Intracellular to Secreted Enzyme Activity
Ultrasonographic Findings in Neonates Screened for Congenital Hypothyroidism
Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency
A possible mechanism of neonatal intrahepatic cholestasis caused by citrin deficiency
Novel missense mutation (R94S) in the TAZ (G4.5) gene in a Japanese patient with Barth syndrome
An undescribed subset of neonatal interahepatic cholestasis associated with multiple hyperaminoacidemia
Improved Quality of Life and Unchanged Magnetic Resonance Brain Imaging After Living Donor Liver Transplantation for Late-Onset Ornithine Transcarbamylase Deficiency : Report of a Case
Histological findings in the livers of patients with neonatal intrahepatic cholestasis caused by citrin deficiency
Intravenous glycerol therapy should not be used in patients with unrecognized fructose-1, 6-bisphosphatase deficiency
Molecular analysis of a presymptomatic case of carnitine palmitoyl transferase I (CPT I) deficiency detected by tandem mass spectrometry newborn screening in Japan
Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia
Mucolipidosis II and III alpha/beta : mutation analysis of 40 Japanese patients showed genotype-phenotype correlation
Cross-sectional study of bone metabolism with nutrition in adult classical phenylketonuric patients diagnosed by neonatal screening

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