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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
|
| pubmed:dateCreated |
1993-6-8
|
| pubmed:abstractText |
A case of primary de Toni-Debré-Fanconi syndrome with hypercalciuria and urinary calculosis was reported and the relationships between congenital and acquired de Toni-Debré-Fanconi syndrome are discussed. The dysmorphic, facial features of primary de Toni-Debré-Fanconi are particularly outlined and common, genetic basis supposed. The new studies about the tubular defect for aminoaciduria, phosphaturia and glycosuria are reported and discussed. For the de Toni-Debré-Fanconi syndrome primary and on genetic basis, the name "de Toni-Debré-Fanconi disease" is appropriate.
|
| pubmed:language |
ita
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:issn |
0391-5387
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
15
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
79-85
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading | |
| pubmed:articleTitle |
[Primary Toni-Debré-Fanconi syndrome].
|
| pubmed:affiliation |
Cattedra di Pediatria, Università di Genova, Italia.
|
| pubmed:publicationType |
Journal Article,
English Abstract,
Case Reports
|