A New Type of Mucolipidosis with β-Galactosidase Deficiency and Glycopeptiduria
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- ORII TADAO
- Department of Pediatrics, Sapporo Medical College
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- MINAMI RYOJI
- Department of Pediatrics, Sapporo Medical College
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- SUKEGAWA KAZUKO
- Department of Pediatrics, Sapporo Medical College
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- SATO SHIGEO
- Department of Pediatrics, Sapporo Medical College
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- TSUGAWA SATOSHI
- Department of Pediatrics, Sapporo Medical College
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- HORINO KIYOTAKA
- Department of Pediatrics, Sapporo Medical College
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- MIURA RYOICHI
- Department of Pediatrics, Sapporo Medical College
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- NAKAO TOORU
- Department of Pediatrics, Sapporo Medical College
Bibliographic Information
- Other Title
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- A new type of mucolipidosis with ベータ-galactosidase deficiency and glycopeptiduria
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Description
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.
Journal
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- The Tohoku Journal of Experimental Medicine
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The Tohoku Journal of Experimental Medicine 107 (4), 303-315, 1972
Tohoku University Medical Press
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Details 詳細情報について
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- CRID
- 1390282679217942144
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- NII Article ID
- 130003491675
- 40018681840
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- NII Book ID
- AA00863920
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- COI
- 1:STN:280:CSyD2MjjtlA%3D
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- ISSN
- 13493329
- 00408727
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- NDL BIB ID
- 7672304
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- PubMed
- 4264413
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- Text Lang
- en
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- Data Source
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- JaLC
- NDL
- Crossref
- PubMed
- CiNii Articles
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- Abstract License Flag
- Disallowed