| Hypophosphatasia in an adult: a case report. | |
MedLine Citation:
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PMID: 1865578 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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In this rare case of adult hypophosphatasia, no radiological abnormalities of the skeletal system could be detected even by dual energy X-ray absorptiometry. Severe dental caries was the sole clinical manifestation, indicating this case as an "odontohypophosphatasia". The levels of serum osteocalcin were low, which may be a useful biochemical marker to diagnose hypophosphatasia. Southern blot analyses of the genomic DNA revealed no gross abnormalities. Thus, hypophosphatasia in this patient was presumed to be caused by point mutations or small deletions. In a review of previous reports, an increased incidence among women was found. |
Authors:
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M Nangaku; N Sato; K Sugano; F Takaku |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: Japanese journal of medicine Volume: 30 ISSN: 0021-5120 ISO Abbreviation: Jpn. J. Med. Publication Date: 1991 Jan-Feb |
Date Detail:
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Created Date: 1991-09-11 Completed Date: 1991-09-11 Revised Date: 2005-11-16 |
Medline Journal Info:
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Nlm Unique ID: 0247713 Medline TA: Jpn J Med Country: JAPAN |
Other Details:
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Languages: eng Pagination: 47-52 Citation Subset: IM |
Affiliation:
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Third Department of Internal Medicine, Faculty of Medicine, University of Tokyo, Japan. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Alkaline Phosphatase
/
blood,
deficiency*,
genetics Bone Density DNA / analysis Ethanolamines / urine Female Humans Hypophosphatasia* / complications, genetics, metabolism, pathology Incidence Middle Aged Osteocalcin / blood Sex Factors Tooth Loss / etiology* |
| Chemical | |
Reg. No./Substance:
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0/Ethanolamines; 104982-03-8/Osteocalcin; 1071-23-4/phosphorylethanolamine; 9007-49-2/DNA; EC 3.1.3.1/Alkaline Phosphatase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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