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Department Of Pediatrics Hiroshima University Graduate School Of Biomedical Sciences | 論文
- Enzyme Therapy in Gaucher Disease Type 2 : An Autopsy Case
- Preparation of L-Talose and D-Gulose from L-Tagatose and D-Sorbose, Respectively, Using Immobilized L-Rhamnose Isomerase
- Niemann-Pick Disease Type C : Cataplexy and Hypocretin in Cerebrospinal Fluid
- A molecular lesion in a Japanese patient with severe phenotype of 3-methylglutaconic aciduria type I
- Different neuroradiological findings during two stroke-like episodes in a patient with a congenital disorder of glycosylation type Ia
- Using Transthoracic Doppler Echocardiography to Diagnose Reduced Coronary Flow Velocity Reserve in the Posterior Descending Coronary Artery in Children With Elevated Right Ventricular Pressure
- ホモシスチン尿症の新生児スクリーニング対するHPLC法に濾紙血中の総ホモシステイン濃度の測定
- The C677T mutation in the methylenetetrahydrofolate reductase gene contributes to hyperhomocysteinemia in patients taking anticonvulsants
- Left Ventricular Systolic and Diastolic Function During Early Neonatal Period Using Transthoracic Echocardiography
- Cloning and Sequencing of an Endoglucanase Gene from Scopulariopsis brevicaulis TOF-1212,and Its Expression in Saccharomyces cerevisiae
- Stable-isotope dilution gas chromatography-mass spectrometric measurement of 3-hydroxyglutaric acid, glutaric acid and related metabolites in body fluids of patients with glutaric aciduria type 1 found in newborn screening
- Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications
- Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia
- Limited effectiveness of betaine therapy for cystathionine β synthase deficiency
- Delay of liver maturation as a cause of transient neonatal galactosemia
- Transient galactosemia detected by neonatal mass screening
- Significance of immature platelet fraction and CD41-positive cells at birth in early onset neonatal thrombocytopenia
- Cloning and Overexpression of the Xylitol Dehydrogenase Gene from Bacillus pallidus and Its Application to L-Xylulose Production
- Polyol Conversion Specificity of Bacillus pallidus
- Bioproduction of D-Psicose from Allitol with Enterobacter aerogenes IK7 : A New Frontier in Rare Ketose Production