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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
11
|
| pubmed:dateCreated |
1978-4-26
|
| pubmed:abstractText |
We have studied a child 10 years old with a defficit of alpha-fucosidase demonstrated in the urine, serum, tears and fibroblasts culture. The clinical evolution and the presence of a "angiokeratom corporis diffusum" permits one to diagnose the patient in the type 2 fucosidosis. We have revised the clinical features, the exigible criteria for biochemical diagnosis, the histopathological findings, ultrastructural alterations and the genetic aspects; specially the behaviour of the H substance and Lewis in the red cell and saliva.
|
| pubmed:language |
spa
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Nov
|
| pubmed:issn |
0302-4342
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
10
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
857-66
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:607839-Biopsy,
pubmed-meshheading:607839-Child,
pubmed-meshheading:607839-Diagnosis, Differential,
pubmed-meshheading:607839-Glucosidases,
pubmed-meshheading:607839-Humans,
pubmed-meshheading:607839-Male,
pubmed-meshheading:607839-Mucolipidoses,
pubmed-meshheading:607839-alpha-L-Fucosidase
|
| pubmed:year |
1977
|
| pubmed:articleTitle |
[Fucosidosis type 2. A new case (author's transl)].
|
| pubmed:publicationType |
Journal Article,
English Abstract,
Case Reports
|