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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
5
|
pubmed:dateCreated |
1999-2-5
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pubmed:abstractText |
The clinical phenotype of Schimke immunoosseous dysplasia (SID) is characterized by growth retardation, renal failure, recurrent infections, cerebral infarcts, and skin pigmentation beginning in childhood. We report here on a 4-year-old male child who had all characteristic symptoms of SID, and, in addition, vomiting and prolonged diarrhea. The study results suggest that malabsorption, demonstrated as increased serum immunoglobulin A anti-gliadin antibody, steatorrhea and partial villous atrophy of the jejunal small bowel, is a previously unrecognized feature of SID.
|
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:status |
MEDLINE
|
pubmed:month |
Jun
|
pubmed:issn |
0148-7299
|
pubmed:author | |
pubmed:issnType |
Print
|
pubmed:day |
5
|
pubmed:volume |
77
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
427-30
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:9632175-Autoimmune Diseases,
pubmed-meshheading:9632175-Cerebral Infarction,
pubmed-meshheading:9632175-Child, Preschool,
pubmed-meshheading:9632175-Gastrointestinal Diseases,
pubmed-meshheading:9632175-Growth Disorders,
pubmed-meshheading:9632175-Humans,
pubmed-meshheading:9632175-Liver,
pubmed-meshheading:9632175-Male,
pubmed-meshheading:9632175-Osteochondrodysplasias,
pubmed-meshheading:9632175-Renal Insufficiency
|
pubmed:year |
1998
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pubmed:articleTitle |
Autoimmune enteropathy in Schimke immunoosseous dysplasia.
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pubmed:affiliation |
Department of Clinical Genetics, Helsinki University Central Hospital, Finland. ilkka.kaitila@huch.fi
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pubmed:publicationType |
Journal Article,
Case Reports
|