|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
2
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|
pubmed:dateCreated |
1990-12-5
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|
pubmed:abstractText |
A boy aged 9 years presenting short stature and recurrent respiratory-tract infections was studied. The clinical and roentgenological pictures allowed the diagnosis of cartilage-hair hypoplasia (metaphyseal chondrodysplasia, McKusick type). Biochemical studies disclosed a four-fold increase in adenosine deaminase activity, but without evidence of anemia. Immunological evaluation showed abnormal cellular but normal humoral immunity.
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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
|
|
pubmed:issn |
0003-3995
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
33
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
99-102
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|
pubmed:dateRevised |
2004-11-17
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|
pubmed:meshHeading |
pubmed-meshheading:2241093-Abnormalities, Multiple,
pubmed-meshheading:2241093-Adenosine Deaminase,
pubmed-meshheading:2241093-Cartilage Diseases,
pubmed-meshheading:2241093-Child,
pubmed-meshheading:2241093-Consanguinity,
pubmed-meshheading:2241093-Dwarfism,
pubmed-meshheading:2241093-Hair Diseases,
pubmed-meshheading:2241093-Humans,
pubmed-meshheading:2241093-Immunity, Cellular,
pubmed-meshheading:2241093-Immunologic Deficiency Syndromes,
pubmed-meshheading:2241093-Male,
pubmed-meshheading:2241093-Pedigree
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|
pubmed:year |
1990
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|
pubmed:articleTitle |
Increased adenosine deaminase activity in a patient with cartilage-hair hypoplasia.
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|
pubmed:affiliation |
Divisione de Genética, Instituto Mexicano del Seguro Social, Guadalajara.
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pubmed:publicationType |
Journal Article,
Case Reports
|
