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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
1
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pubmed:dateCreated |
1981-9-25
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pubmed:abstractText |
Type II fucosidosis in an autosomal recessive disease. The paper presents a case of a patient with alpha-L-fucosidase of whom a skin specimen was examined under the electron microscope. Storage material was observed mainly in endothelial cells of blood capillaries and Schwann cells surrounding small peripheral nerves of papillary dermis. Within both cells two different kinds of inclusions were revealed: (1) clear vacuoles and (2) dense bodies with an internal structure prevalently lamellar. All these ultrastructural alterations were observed long before the appearance of clinically defined angiokeratoma at cutaneous level. Hence, they present the same alteration found in the absence of angiokeratoma in type I fucosidosis.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:issn |
0340-3696
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
270
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
57-66
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:7259293-Angiokeratoma,
pubmed-meshheading:7259293-Carbohydrate Metabolism, Inborn Errors,
pubmed-meshheading:7259293-Child, Preschool,
pubmed-meshheading:7259293-Female,
pubmed-meshheading:7259293-Fucose,
pubmed-meshheading:7259293-Humans,
pubmed-meshheading:7259293-Microscopy, Electron,
pubmed-meshheading:7259293-Schwann Cells,
pubmed-meshheading:7259293-Skin,
pubmed-meshheading:7259293-Skin Neoplasms
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pubmed:year |
1981
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pubmed:articleTitle |
Ultrastructural studies of type II fucosidosis.
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pubmed:publicationType |
Journal Article,
Case Reports
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