| Sea-blue histiocyte syndrome with bone anomalies. | |
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MedLine Citation:
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PMID: 757536 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Two sisters, now 29 and 24 years old, are described. They presented a congenital storage of, most probably, phospholipids in the histiocytes of the sea-blue type or blue pigmentophages. The granules of these cells showed a PAS positivity and strong positivity for acid phosphatase, but there were negative also for non-specific esterase, naphthol-AS-D-chloracetate esterase and iron acid also for urine mucopolysaccharide. The two cases differed from all the described cases in the absence of hepatosplenomegaly and in the presence of bone changes resembling late spondyloepiphyseal dysplasia or atypical dysostosis multiplex. |
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Authors:
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J Janele; V Brychnác; V Lodrová |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Haematologia Volume: 12 ISSN: 0017-6559 ISO Abbreviation: Haematologia (Budap) Publication Date: 1978-1979 |
Date Detail:
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Created Date: 1980-05-30 Completed Date: 1980-05-30 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0130266 Medline TA: Haematologia (Budap) Country: HUNGARY |
Other Details:
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Languages: eng Pagination: 215-20 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Acid Phosphatase Adult Bone and Bones / abnormalities*, radiography Esterases Female Histiocytes / enzymology* Humans Niemann-Pick Diseases / enzymology* Periodic Acid-Schiff Reaction Phospholipids Syndrome |
| Chemical | |
Reg. No./Substance:
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0/Phospholipids; EC 3.1.-/Esterases; EC 3.1.3.2/Acid Phosphatase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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