The Tohoku Journal of Experimental Medicine
Online ISSN : 1349-3329
Print ISSN : 0040-8727
ISSN-L : 0040-8727
A New Type of Mucolipidosis with β-Galactosidase Deficiency and Glycopeptiduria
TADAO ORIIRYOJI MINAMIKAZUKO SUKEGAWASHIGEO SATOSATOSHI TSUGAWAKIYOTAKA HORINORYOICHI MIURATOORU NAKAO
著者情報
ジャーナル フリー

1972 年 107 巻 4 号 p. 303-315

詳細
抄録

Clinical, biochemical and electron microscopic studies on a patient of a new type of mucolipidosis are described. The patient is a 14-year-old Japanese boy who has coarse facies, dysostosis multiplex, neurologic deterioration, corneal clouding, macular cherry red spot, β-galactosidase deficiency, glycopeptiduria, and vacuolated cells in hepatic parenchyma, renal glomeruli, renal bone marrow and peripheral lymphocytes.

著者関連情報
© Tohoku University Medical Press
次の記事
feedback
Top