Mutsuko Fujimaru

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Four unrelated Japanese patients with infantile Sandhoff disease (β-hexosaminidase β-subunit deficiency) have been studied for the molecular basis of their severe phenotype. Two patients had complex(More)
AbstractTwo novel mutations of the β-hexosaminidase α subunit gene were identified in Japanese patients with the infantile form of Tay-Sachs disease. One mutation was a one-base deletion at nt613C,(More)
In the present study, we compared lumbar spinal and whole-body bone mineral density (BMD) measurements to determine which is more suitable for evaluating the bone mineral status of low-birth-weight(More)
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