| pubmed-article:1925679 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:1925679 | lifeskim:mentions | umls-concept:C0029454 | lld:lifeskim |
| pubmed-article:1925679 | lifeskim:mentions | umls-concept:C0001126 | lld:lifeskim |
| pubmed-article:1925679 | lifeskim:mentions | umls-concept:C0270685 | lld:lifeskim |
| pubmed-article:1925679 | lifeskim:mentions | umls-concept:C0039082 | lld:lifeskim |
| pubmed-article:1925679 | lifeskim:mentions | umls-concept:C0345407 | lld:lifeskim |
| pubmed-article:1925679 | lifeskim:mentions | umls-concept:C0332281 | lld:lifeskim |
| pubmed-article:1925679 | lifeskim:mentions | umls-concept:C0085973 | lld:lifeskim |
| pubmed-article:1925679 | lifeskim:mentions | umls-concept:C0007320 | lld:lifeskim |
| pubmed-article:1925679 | pubmed:issue | 6 | lld:pubmed |
| pubmed-article:1925679 | pubmed:dateCreated | 1991-11-7 | lld:pubmed |
| pubmed-article:1925679 | pubmed:abstractText | A 4-month-old infant with bronchiolitis was found to have hyperdense bones on chest roentgenograms. The diagnosis of osteopetrosis was demonstrated by generalized increased radiological bone density and by a bone biopsy showing persistence of calcified cartilage. The infant also had a mixed proximal and distal renal tubular acidosis requiring as much as 12 mEq/kg per day of sodium bicarbonate. Measurement of his erythrocyte carbonic anhydrase activity revealed a deficiency of CA II. His parents showed values of CA activity that were intermediate between controls and the proband. Thus, this is a patient with the CA II deficiency syndrome; he is the youngest reported case without any family history of osteopetrosis to be diagnosed initially on the basis of his radiographic features. | lld:pubmed |
| pubmed-article:1925679 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1925679 | pubmed:language | eng | lld:pubmed |
| pubmed-article:1925679 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1925679 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:1925679 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1925679 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:1925679 | pubmed:issn | 0364-2348 | lld:pubmed |
| pubmed-article:1925679 | pubmed:author | pubmed-author:DorfmanH DHD | lld:pubmed |
| pubmed-article:1925679 | pubmed:author | pubmed-author:SchwartzG JGJ | lld:pubmed |
| pubmed-article:1925679 | pubmed:author | pubmed-author:BrionL PLP | lld:pubmed |
| pubmed-article:1925679 | pubmed:author | pubmed-author:CoreyH EHE | lld:pubmed |
| pubmed-article:1925679 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:1925679 | pubmed:volume | 20 | lld:pubmed |
| pubmed-article:1925679 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:1925679 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:1925679 | pubmed:pagination | 447-52 | lld:pubmed |
| pubmed-article:1925679 | pubmed:dateRevised | 2007-11-14 | lld:pubmed |
| pubmed-article:1925679 | pubmed:meshHeading | pubmed-meshheading:1925679-... | lld:pubmed |
| pubmed-article:1925679 | pubmed:meshHeading | pubmed-meshheading:1925679-... | lld:pubmed |
| pubmed-article:1925679 | pubmed:meshHeading | pubmed-meshheading:1925679-... | lld:pubmed |
| pubmed-article:1925679 | pubmed:meshHeading | pubmed-meshheading:1925679-... | lld:pubmed |
| pubmed-article:1925679 | pubmed:meshHeading | pubmed-meshheading:1925679-... | lld:pubmed |
| pubmed-article:1925679 | pubmed:meshHeading | pubmed-meshheading:1925679-... | lld:pubmed |
| pubmed-article:1925679 | pubmed:meshHeading | pubmed-meshheading:1925679-... | lld:pubmed |
| pubmed-article:1925679 | pubmed:meshHeading | pubmed-meshheading:1925679-... | lld:pubmed |
| pubmed-article:1925679 | pubmed:meshHeading | pubmed-meshheading:1925679-... | lld:pubmed |
| pubmed-article:1925679 | pubmed:meshHeading | pubmed-meshheading:1925679-... | lld:pubmed |
| pubmed-article:1925679 | pubmed:year | 1991 | lld:pubmed |
| pubmed-article:1925679 | pubmed:articleTitle | Case report 668. Carbonic anhydrase II deficiency syndrome (osteopetrosis associated with renal tubular acidosis and cerebral calcification). | lld:pubmed |
| pubmed-article:1925679 | pubmed:affiliation | Department of Pediatrics, Montefiore Medical Center, Bronx, New York. | lld:pubmed |
| pubmed-article:1925679 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:1925679 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:1925679 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:1925679 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:760 | entrezgene:pubmed | pubmed-article:1925679 | lld:entrezgene |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1925679 | lld:pubmed |
