Michitaka Owada

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I-cell disease (ML II) and pseudo-Hurler poly-dystrophy (ML-III) are lysosomal storage diseases caused by abnormal lysosomal enzyme phosphorylation and localization. In both diseases, newly synthesized lysosomal enzymes are secreted into the extra-cellular medium instead of being targeted correctly to lysosomes. All cells and tissues of affected medium(More)
The overall annual IDDM incidence rates by area in Japan for 1985-1989 for children 0-14 years of age at diagnosis were from 1.65 to 2.07 per 100,000. The incidence in males and females did not show any temporal trends during the period between 1980 and 1989. The prevalence of IDDM was about 1 per 10,000. The clinical features at diagnosis among Japanese(More)
We evaluated the characteristics of renal lesions in rat autosomal recessive polycystic kidney (ARPK). In rat ARPK, small cysts appeared primarily in the medulla 2 months after birth and gradually extended to the cortex, forming large cysts involving the entire layer after 8 months. By immunofluorescence microscopy, type IV collagen was more strongly(More)
Non-insulin dependent diabetes (NIDDM) was diagnosed in 188 of more than 7 million Tokyo schoolchildren tested between 1974 and 1994 for glycosuria followed by oral glucose tolerance testing. The incidence rate of NIDDM in youth has continued to increase since 1976. While the daily energy intake has not changed significantly, the consumption of animal(More)
Fabry Disease (α-galactosidase A deficiency) is an X-linked hereditary disorder leading to the pathological accumulation of globotriaosylceramide (GL-3) in lysosomes, particularly in the vascular endothelium of the kidney, heart and brain. We report the results of an open-label phase 2 study that was undertaken to evaluate whether ethnic differences exist(More)
To clarify the characteristics of idiopathic type 1 (type 1B) diabetes mellitus (DM), we compared the clinical features of immune-mediated type 1 (type 1A) DM and type 1B DM in 85 Japanese children and adolescents with DM. The prevalence of type 1B DM was 16.5%. The patients with type 1B DM were significantly younger at diagnosis and had a higher frequency(More)
A deficiency of dihydrobiopterin synthesis was found in a 27-year-old man with mild mental retardation, rigid spasticity, hyperreflexia, dystonia, myoclonus, and delay in the initiation of action, since age 10. Symptoms improved after sleep. Urine contained large amounts of neopterin and a trace of biopterin. Dihydropteridine reductase activity in red blood(More)
An 11 month old boy with hypospadias and bilateral undescended testes developed renal failure. Denys-Drash syndrome was suspected and molecular analysis of the WT1 gene was performed, although no Wilms' tumor was identified. Direct sequencing analysis of genomic DNA from this patient revealed a G to A transition resulting in 366Arg to Leu substitution in(More)